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Article

[Collagen VI-related muscle disorders].

Brain and nerve = Shinkei kenkyu no shinpo - 1 Nov 2011

Higuchi Itsuro

Abstract excerpt

Collagen VI-related muscle disorders include severe Ullrich's disease (Ullrich congenital muscular dystrophy:UCMD) and milder Bethlem myopathy. Mutations in the 3 collagen VI genes, namely, COL6A1, COL6A2, and COL6A3, cause both diseases. UCMD is inherited in an autosomal recessive manner, and de novo dominant mutations are also reported. Bethlem myopathy is usually inherited in an autosomal dominant manner, but...

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PMID: 22068469

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