ArticleNeurology2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Open access · greenAbstract read
In one paragraph
Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Outcome measures in muscular dystrophy rehabilitation: an ICF content comparison approach to the most commonly used MD scales.Journal of rehabilitation medicine · 2025Pooled it
- Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.Disease models & mechanisms · 2026Article
- Landscape Analysis ofBiomolecules · 2025Article
- Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.Brain : a journal of neurology · 2025Article
- Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Autosomal recessive Bethlem myopathy: a 30-year journey.Journal of neurology · 2025Article
- Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.Journal of the Royal Society, Interface · 2025Article
- Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.Journal of molecular neuroscience : MN · 2024Article
- Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.Neurogenetics · 2024Article
- The recurrent deep intronic pseudoexon-inducing variantmedRxiv : the preprint server for health sciences · 2024Article
- Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.Scientific reports · 2023Article
- New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.International journal of molecular sciences · 2023Article
- Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.Frontiers in genetics · 2023Article
- The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.International journal of molecular sciences · 2022Article
- CRISPR/Cas9-Mediated Allele-Specific Disruption of a DominantInternational journal of molecular sciences · 2022Article
- PersonalizedFrontiers in bioengineering and biotechnology · 2022Article
Corrections and comments
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Authors and funding
30 authors at 2 institutions in 1 country.
Daniel Natera-de BenitoFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain. dnatera@sjdhospitalbarcelona.org.
A Reghan FoleyFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Cristina Domínguez-GonzálezFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Carlos OrtezFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Minal JainFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Aron MebrahtuFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Sandra DonkervoortFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Ying HuFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Margaret FinkFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Pomi YunFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Tracy OgataFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Julita MedinaFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Meritxell VigoFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Katherine G MeilleurFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Meganne E LeachFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jahannaz DastgirFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jordi Díaz-ManeraFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Laura Carrera-GarcíaFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jessica Expósito-EscuderoFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Macarena AlarconFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Daniel CuadrasFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Elena Montiel-MorilloFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
José C MilisendaFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Raul Dominguez-RubioFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Montse OlivéFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jaume ColomerFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Cristina JouFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Cecilia Jimenez-MallebreraFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Carsten G BönnemannFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Andres NascimentoFrom the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Centre for Biomedical Network Research on Rare Diseases · ESHospital Sant Joan de Déu Barcelona · ES
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MAbstract
objectiveTo accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to improve clinical trial readiness.
methodsThis retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary function with the initial maximal motor ability achieved in individuals with COL6-RD.
resultsWe studied 119 patients with COL6-RD from Spain (n = 54) and the United States (n = 65). The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing demonstrated reliability in distinguishing between 3 COL6-RD phenotypic subgroups: (1) Ullrich congenital muscular dystrophy, (2) intermediate COL6-RD, and (3) Bethlem myopathy. Long-term motor function and pulmonary function are strongly correlated with the maximal motor ability achieved during the first years of life. Maximal motor capacity can predict other disease-relevant events such as the age at loss of ambulation and the need for the initiation of nocturnal noninvasive ventilation.
conclusionThis work proposes a prospective phenotypic classification for COL6-RDs that will enable an accurate prediction of a patient's COL6-RD phenotype during the first years of life. The ability to establish a patient's COL6-RD phenotypic classification early will enable a more accurate prognosis of future motor and pulmonary function, thus improving anticipatory clinical care, and it will be instrumental in aiding the design of future clinical trials by allowing early stratification of trial cohorts.
Indexed as
Psychomotor PerformanceAdolescentAdultAgedChildChild, PreschoolCollagen Type VIDisease ProgressionFemaleGenotypeHumansKaplan-Meier EstimateLungMaleMiddle AgedMuscular DystrophiesCollagen Type VI
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.