Article
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Neuromuscular disorders : NMD - 1 Oct 2006
Jimenez-Mallebrera C, Maioli M A, Kim J, Brown S C, Feng L, Lampe A K, Bushby K, Hicks D, Flanigan K M, Bonnemann C, Sewry C A, Muntoni F
Abstract excerpt
Ullrich congenital muscular dystrophy (UCMD) is caused by recessive and dominant mutations in COL6A genes. We have analysed collagen VI expression in 14 UCMD patients. Sequencing of COL6A genes had identified homozygous and heterozygous mutations in 12 cases. Analysis of collagen VI in fibroblast cultures derived from eight of these patients showed reduced extracellular deposition in all cases and intracellular...
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