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

doi:10.3233/JND-200577

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Article

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

Journal of neuromuscular diseases - 1 Jan 2021

Villar-Quiles Rocío N, Donkervoort Sandra, de Becdelièvre Alix, Gartioux Corine, Jobic Valérie, Foley A Reghan, McCarty Riley M, Hu Ying, Menassa Rita, Michel Laurence, Gousse Gaelle, Lacour Arnaud, Petiot Philippe, Streichenberger Nathalie, Choumert Ariane, Declerck Léa, Urtizberea J A, Sole Guilhem, Furby Alain, Cérino Matthieu, Krahn Martin, Campana-Salort Emmanuelle, Ferreiro Ana, Eymard Bruno, Bönnemann Carsten G, Bharucha-Goebel Diana, Sumner Charlotte J, Connolly Anne M, Richard Pascale, Allamand Valérie, Métay Corinne, Stojkovic Tanya

Abstract excerpt

BACKGROUND: 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...

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PMID: 33749658
DOI: 10.3233/JND-200577

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