Article
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Human mutation - 1 Jun 2008
Lampe A K, Zou Y, Sudano D, O'Brien K K, Hicks D, Laval S H, Charlton R, Jimenez-Mallebrera C, Zhang R-Z, Finkel R S, Tennekoon G, Schreiber G, van der Knaap M S, Marks H, Straub V, Flanigan K M, Chu M-L, Muntoni F, Bushby K M D, Bönnemann C G
Abstract excerpt
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two related conditions of differing severity. BM is a relatively mild dominantly inherited disorder characterized by proximal weakness and distal joint contractures. UCMD was originally regarded as an exclusively autosomal recessive condition causing severe muscle...
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