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Review
. 2005 Sep;42(9):673-85.
doi: 10.1136/jmg.2002.002311.

Collagen VI related muscle disorders

A K Lampe  1 , K M D Bushby
Affiliations
Review

Collagen VI related muscle disorders

A K Lampe et al. J Med Genet. 2005 Sep.

Abstract

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.

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References

    1. Neuromuscul Disord. 2003 Sep;13(7-8):554-8 - PubMed
    1. Clin Neuropathol. 1989 Mar-Apr;8(2):69-71 - PubMed
    1. J Biol Chem. 2002 Dec 20;277(51):49120-6 - PubMed
    1. Genomics. 1995 Oct 10;29(3):801-3 - PubMed
    1. Eur J Biochem. 1984 Aug 1;142(3):493-502 - PubMed

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