ArticleNeurology. Genetics2016
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
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Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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16citing papers in PubMed, 2 pooled it
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Gmppb-mutant mice exhibit dystroglycanopathy symptoms that are rescued with GSK3β inhibition or AAV-mediated GMPPB gene replacement.Nature communications · 2026Article
- Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.PloS one · 2026Article
- A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review.Muscles (Basel, Switzerland) · 2023Review
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- GDP-Mannose Pyrophosphorylase B (Genes · 2023Review
- Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.Journal of molecular neuroscience : MN · 2022Review
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- Article
- Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.Journal of neuromuscular diseases · 2021Article
- Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.Bosnian journal of basic medical sciences · 2020Review
- Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).Neuromuscular disorders : NMD · 2020Article
- Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.Annals of clinical and translational neurology · 2019Article
- Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.Orphanet journal of rare diseases · 2018Article
- Mutations in GMPPB Presenting with Pseudometabolic Myopathy.JIMD reports · 2018Article
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Authors and funding
11 authors at 1 institution in 1 country.
S T OestergaardCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
T StojkovicCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
J R DahlqvistCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
C Bouchet-SeraphinCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
J NectouxCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
F LeturcqCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
M CosséeCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
G SoléCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
C ThomsenCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
T O KragCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
J VissingCopenhagen Neuromuscular Center (S.T.O., J.R.D., T.O.K., J.V.), Department of Neurology, Department of Diagnostic Radiology (C.T.), Rigshospitalet, University of Copenhagen, Denmark; AP-HP, Institute of Myology (T.S.), Centre de reference des maladies neuromusculaires Paris Est, G-H Pitié-Salpêtrière; AP-HP, Hôpital Bichat (C.B.-S.), Département de Biochimie et de Génétique, Paris; Service de génétique et biologie moléculaires (J.N., F.L.), HUPC Hôpital Cochin, Paris; Laboratoire de Génétique Moléculaire and UE 7402 (M.C.), CHRU Montpellier, Université Montpellier; and Center of Reference for Neuromuscular Disorders (G.S.), CHU Bordeaux, France.
Centre Hospitalier Universitaire de Bordeaux · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveIn this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with limb-girdle muscular dystrophy (LGMD) type 2T.
methodsSix new patients with genetically verified mutations in
resultsTwo patients carried 3 new mutations in
conclusionsThe new findings of this study are (1) the consistent finding of a preferential affection of paraspinal and hamstring muscles in LGMD2T, (2) 3 new mutations in GMPPB, (3) variable loss of glycosylation tested with IIH6 and VIA4 antibodies, and (4) a prevalence of LGMD2T of 1.5% in a well-characterized Danish LGMD cohort.
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