Article
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.
Biochemical and biophysical research communications - 19 May 1999
Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu M L
Abstract excerpt
Bethlem myopathy is a mild neuromuscular disorder with proximal muscular weakness and early flexion contractures. It is an autosomal dominant disease due to mutations in type VI collagen genes. We found a T-->C substitution at the +2 position of COL6A1 intron 14 in a family, leading to skipping of exon 14 and an in-frame deletion of 18 amino acids in the triple-helical domain of the alpha1(VI) collagen chain. The...
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