ArticleNeurology2015
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Abstract readMulticenter Study
In one paragraph
Article in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
What it found
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The trial behind it
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Who cites it
34 citing papers in PubMed, 65 citations in OpenAlex.
- Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.Nature medicine · 2024Trial
- Trial
- Repairing the defective folding of alpha-sarcoglycan is needed to promote myogenic cell engraftment in 3D artificial muscle models of LGMDR3.Skeletal muscle · 2025Article
- Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.Neurology. Clinical practice · 2025Review
- A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy.Journal of neuromuscular diseases · 2025Observational
- Sarcoglycanopathies: From clinical diagnosis to new promising therapies.Journal of neuromuscular diseases · 2025Review
- Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.Orphanet journal of rare diseases · 2025Article
- HeartMate 3 Left Ventricular Assist Device Implantation in a Pediatric Patient With Limb-Girdle Muscular Dystrophy.Ochsner journal · 2025Article
- Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.International journal of molecular sciences · 2024Article
- In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.Molecular genetics & genomic medicine · 2024Article
- Precision Genetic Therapies: Balancing Risk and Benefit in Patients with Heart Failure.Current cardiology reports · 2024Review
- Advanced Heart Failure Therapies in Neuromuscular Diseases.Current treatment options in cardiovascular medicine · 2024Article
- Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice.Scientific reports · 2024Article
- Reduced cardiac antioxidant defenses mediate increased susceptibility to workload-induced myocardial injury in males with genetic cardiomyopathy.Journal of molecular and cellular cardiology · 2024Article
- Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.Neurology. Genetics · 2023Article
- Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.The Journal of clinical investigation · 2023Article
- Concept Elicitation Interviews and Conceptual Model to Understand the Patient Experience of Limb Girdle Muscular Dystrophy.Advances in therapy · 2023Article
- Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in theInternational journal of molecular sciences · 2022Article
- Unravelling genetic variants of a swedish family with high risk of prostate cancer.Hereditary cancer in clinical practice · 2022Article
- Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Claudio SempliciniFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
John VissingFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Julia R DahlqvistFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Tanya StojkovicFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Luca BelloFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Nanna WittingFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Morten DunoFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
France LeturcqFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Cinzia BertolinFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Paola D'AmbrosioFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Bruno EymardFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Corrado AngeliniFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Luisa PolitanoFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.
Pascal LaforêtFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy. elena.pegoraro@unipd.it pascal.laforet@psl.aphp.fr.
Elena PegoraroFrom the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy. elena.pegoraro@unipd.it pascal.laforet@psl.aphp.fr.
Rigshospitalet · DKUniversity of Copenhagen · DKUniversity of Padua · IT
Funding
Telethon GTB12001
Abstract
objectiveTo determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease.
methodsAll LGMD2E patients followed in participating centers were included. A specific clinical protocol was created, including quantitative evaluation of motor, respiratory, and cardiac function. Phenotype was defined as severe or mild if the age at loss of ambulation occurred before or after 18 years. Molecular analysis of SGCB gene and biochemical features of muscle biopsies were reviewed.
resultsThirty-two patients were included (16 male, 16 female; age 7-67 years; 15 severe, 12 mild, and 5 unknown). Neurologic examination showed proximal muscle weakness in all patients, but distal involvement was also observed in patients with severe disease early in the disease course. Cardiac involvement was observed in 20 patients (63%) even before overt muscle involvement. Six patients had restrictive respiratory insufficiency requiring assisted ventilation (19%). Seventeen different mutations were identified, and 3 were recurrent. The c.377_384dup (13 alleles) was associated with the severe form, the c.-22_10dup (10) with the milder form, and the c.341C>T (9) with both. The entire sarcoglycan complex was undetectable by muscle immunohistochemistry or Western blot in 9/10 severe cases and reduced in 7/7 mild cases. The residual amount of sarcoglycan in muscle resulted a predictor of age at loss of ambulation.
conclusionsThis study expands the spectrum of phenotype in β-sarcoglycanopathy and provides strong evidence that severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan protein expression.
Indexed as
PhenotypeAdolescentAdultAgedAge FactorsChildConsanguinityFemaleHumansMaleMiddle AgedMutationPrognosisSarcoglycanopathiesSarcoglycansSeverity of Illness IndexSarcoglycansSGCB protein, human
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