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Research article

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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Isabelle Nelson, Tanya Stojkovic, Valérie Allamand [...]

Journal of Neuromuscular Diseases

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Research article

First published 2025-6

Pregnancy in a woman with extreme short stature and low body weight secondary to a collagen VI-related muscular dystrophy

Joseph O’Sullivan, Hifsa Mahmood, Ruth A Curry [...]

Obstetric Medicine

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Research article

First published 2020

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

Abhinandan Batra, Donovan J. Lott, Rebecca Willcocks [...]

Journal of Neuromuscular Diseases

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Research article

First published 2021-07-30

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío N. Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2021-03-02

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

Sergey N. Bardakov, Roman V. Deev, Raisat M. Magomedova [...]

Journal of Neuromuscular Diseases

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Research article

First published 2008-11

Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

Lydia U. Yamamoto, Fernando J. Velloso, Bruno L. Lima [...]

Journal of Histochemistry & Cytochemistry

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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

Search results

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Pregnancy in a woman with extreme short stature and low body weight secondary to a collagen VI-related muscular dystrophy

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

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