Article
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Journal of medical genetics - 1 Feb 2005
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 excerpt
INTRODUCTION: 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. METHODS: We...
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