RT Journal Article
SR Electronic
T1 Collagen VI related muscle disorders
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 673
OP 685
DO 10.1136/jmg.2002.002311
VO 42
IS 9
A1 A K Lampe
A1 K M D Bushby
YR 2005
UL http://jmg.bmj.com/content/42/9/673.abstract
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.