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

Rocío N. VillarQuiles | Zendy; Sandra Donkervoort | Zendy; Alix de Becdelièvre | Zendy; Corine Gartioux | Zendy; Valérie Jobic | Zendy; A. Reghan Foley | Zendy; Riley M. McCarty | Zendy; Ying Hu | Zendy; Rita Menassa | Zendy; Laurence Michel | Zendy; Gaelle Gousse | Zendy; Arnaud Lacour | Zendy; Philippe Petiot | Zendy; Nathalie Streichenberger | Zendy; Ariane Choumert | Zendy; Léa Declerck | Zendy; Jon Andoni Urtizberea | Zendy; Guilhem Solé | Zendy; A. Furby | Zendy; Mathieu Cérino | Zendy; Martin Krahn | Zendy; Emmanuelle Salort | Zendy; Ana Ferreiro | Zendy; B. Eymard | Zendy; Carsten G. Bönnemann | Zendy; Diana BharuchaGoebel | Zendy; Charlotte J. Sumner | Zendy; Anne M. Connolly | Zendy; Pascale Richard | Zendy; Valérie Allamand | Zendy; Corinne Métay | Zendy; Tanya Stojkovic | Zendy

Open Access

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

Author(s) -

Rocío N. VillarQuiles,

Sandra Donkervoort,

Alix de Becdelièvre,

Corine Gartioux,

Valérie Jobic,

A. Reghan Foley,

Riley M. McCarty,

Ying Hu,

Rita Menassa,

Laurence Michel,

Gaelle Gousse,

Arnaud Lacour,

Philippe Petiot,

Nathalie Streichenberger,

Ariane Choumert,

Léa Declerck,

Jon Andoni Urtizberea,

Guilhem Solé,

A. Furby,

Mathieu Cérino,

Martin Krahn,

Emmanuelle Salort,

Ana Ferreiro,

B. Eymard,

Carsten G. Bönnemann,

Diana BharuchaGoebel,

Charlotte J. Sumner,

Anne M. Connolly,

Pascale Richard,

Valérie Allamand,

Corinne Métay,

Tanya Stojkovic

Publication year - 2021

Publication title -

journal of neuromuscular diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.366

H-Index - 23

eISSN - 2214-3602

pISSN - 2214-3599

DOI - 10.3233/jnd-200577

Subject(s) - collagen vi , compound heterozygosity , muscle biopsy , muscle contracture , phenotype , muscular dystrophy , extracellular matrix , pathology , missense mutation , congenital muscular dystrophy , myopathy , medicine , biopsy , chemistry , genetics , biology , gene , anatomy

Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital muscular dystrophy) to milder forms maintaining independent ambulation (Bethlem myopathy). Diagnosis is based on the combination of clinical presentation, muscle MRI, muscle biopsy, analysis of collagen VI secretion, and COL6A1-A2-A3 genetic analysis, the interpretation of which can be challenging.

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