PT  - JOURNAL ARTICLE
AU  - A K Lampe
AU  - K M D Bushby
TI  - Collagen VI related muscle disorders
AID  - 10.1136/jmg.2002.002311
DP  - 2005 Sep 01
TA  - Journal of Medical Genetics
PG  - 673--685
VI  - 42
IP  - 9
4099  - http://jmg.bmj.com/content/42/9/673.short
4100  - http://jmg.bmj.com/content/42/9/673.full
SO  - J Med Genet2005 Sep 01; 42
AB  - 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.