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Collagen VI related muscle disorders

Lookup NU author(s): Dr Anne Lampe, Emerita Professor Katherine Bushby


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Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.

Publication metadata

Author(s): Lampe AK, Bushby KMD

Publication type: Review

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2005

Volume: 42

Issue: 9

Pages: 673-685

Print publication date: 01/09/2005

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244


DOI: 10.1136/jmg.2002.002311

PubMed id: 16141002