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Open access

Brief report

First published 2024-07-02

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis,in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene

Michela Bisciglia, Hazim Kadhim, Sophie Lecomte [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2017

Early-Onset Myopathies: Clinical Findings,Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

K. Vill, A. Blaschek, D. Gläser [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-3

Mitochondrial Myopathy: A Rare Cause of Early-Onset Vocal Fold Atrophy

Elizabeth A. Kelly, Jonathan M. Bock, Amanda C. Peltier [...]

Annals of Otology,Rhinology & Laryngology

Open access

Case report

First published 2024

HNRNPA1 de novo Variant Associated with Early Childhood Onset,Rapidly Progressive Generalized Myopathy

Andreas Roos, Martin Häusler, Laxmikanth Kollipara [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published 2017

Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases

Gokcen Oz Tuncer, Serap Teber, Muhammed Gültekin Kutluk [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published 2017

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Carlyn Kouwenberg, Johann Bohm, Corrie Erasmus [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2023-07-04

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)

Dipti Baskar, Seena Vengalil, Saraswati Nashi [...]

Journal of Neuromuscular Diseases

Free access

Brief report

First published 2019

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

Uluç Yiş, Semra Hiz, Sezgin Güneş [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-5

Titinopathies: Phenotype – genotype heterogeneity in an Indian cohort

Dipti Baskar, Seena Vengalil, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2009

Hereditary Inclusion Body Myopathy (HIBM2)

Chris M. Jay, Nick Levonyak, Gregory Nemunaitis [...]

Gene Regulation and Systems Biology

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