ArticleNeurology. Genetics2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers.
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11citing papers in PubMed
3.2field-weighted citation impact, top 8% of its field
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Who cites it
11 citing papers in PubMed, 11 citations in OpenAlex.
- Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.Neurology. Genetics · 2026Article
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- Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series.Neurogenetics · 2026Article
- Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.Journal of the peripheral nervous system : JPNS · 2026Article
- Establishing Diagnostic and Differential Diagnostic Criteria for Amyotrophic Lateral Sclerosis.Journal of clinical medicine · 2025Review
- DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.Molecular genetics & genomic medicine · 2025Review
- Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.Orphanet journal of rare diseases · 2025Article
- Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.Genes · 2024Review
- Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.Neurology. Genetics · 2024Article
- Molecular Mechanisms in the Design of Novel Targeted Therapies for Neurodegenerative Diseases.Current issues in molecular biology · 2024Review
- Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.Neurology. Genetics · 2024Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
23 authors at 1 institution in 2 countries.
Gorka Fernández-EulateFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0003-1112-7464
Julian TheurietFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Christopher J RecordFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0002-9802-2683
Giorgia QuerinFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Marion MasingueFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Sarah Leonard-LouisFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0002-2365-7932
Anthony BehinFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Nadine Le ForestierFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Antoine PegatFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0003-1563-9432
Maud MichaudFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Jean-Baptiste ChansonFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Aleksandra Nadaj-PaklezaFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Celine TardFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Anne-Laure Bedat-MilletFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Guilhem SoleFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0001-9599-6573
Marco SpinazziFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Emmanuelle Salort-CampanaFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0002-1846-3017
Andoni Echaniz-LagunaFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Vianney PoinsignonFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0002-4945-5431
Philippe LatourFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Mary M ReillyFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Francoise BouhourFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.
Tanya StojkovicFrom the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M. Michaud), Central Nancy University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (J.-B.C., A.N.-P.), Strasbourg University Hospitals; Nord/Est/Ile-de-France Neuromuscular Reference Center (C.T.), U1172, Lille University Hospital; Nord/Est/Ile-de-France Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Neuromuscular Reference Center 'AOC' (G.S.), Bordeaux University Hospitals (Pellegrin Hospital); Neuromuscular Reference Center (M.S.), Angers University Hospital; Neuromuscular and ALS Reference Center (E.S.-C.), La Timone University Hospital, Marseille; French National Center for Rare Neuropathies (A.E.-L.), Neurology Department, Bicêtre University Hospital, INSERM U1195, Paris-Saclay University; Molecular Genetics Lab (V.P.), Bicêtre University Hospital, Le Kremlin Bicêtre; and Center for Biology - East (P.L.), Neurological Hereditary Disorders Unit, Hospices Civils de Lyon, France.ORCID https://orcid.org/0000-0002-4054-2838
Institut de Myologie · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Spinal muscular atrophy (SMA) is mainly caused by homozygous Methods: Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel. Results: Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At presentation, 21 patients (29.6%) showed exclusive proximal weakness (P-SMA), 35 (49.3%) showed associated distal weakness (PD-SMA), and 15 (21.1%) a scapuloperoneal phenotype (SP-SMA). Thirty-two patients (45.1%) had a genetic diagnosis: Discussion: Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes.
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