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- Title
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
- Authors
Lampe, A K; Dunn, D M; von Niederhausern, A C; Hamil, C; Aoyagi, A; Laval, S H; Marie, S K; Chu, M-L; Swoboda, K; Muntoni, F; Bonnemann, C G; Flanigan, K M; Bushby, K M D; Weiss, R B
- Abstract
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity.
- Publication
Journal of medical genetics, 2005, Vol 42, Issue 2, p108
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2004.023754