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A complex COL6A3 mutation identification: it takes an international village

Archive ouverte | Allamand, Valérie | CCSD

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

Archive ouverte | Villar-Quiles, Rocío | CCSD

International audience. 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 r...

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

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International audience. Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent conge...

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