Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center

Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center

Collagen type VI-related dystrophies (COL6-RD) are rare diseases with a wide phenotypic spectrum ranging from severe Ullrich’s congenital muscular dystrophy Ullrich congenital muscular dystrophy to much milder Bethlem myopathy Both dominant and recessive forms of COL6-RD are caused by pathogenic var...

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Bibliographic Details
Main Authors: Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokhova
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Genetics
Subjects:
collagen type VI-related myopathies
COL6-RD
Bethlem myopathy
ullrich’s congenital muscular dystrophy
COL6 genes
COL6A1
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1242277/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1242277/full

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