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• W1979969441 abstract "Abstract We have identified highly similar heterozygous COL6A1 genomic deletions, spanning from intron 8 to exon 13 or intron 13, in two patients with Ullrich congenital muscular dystrophy and the milder Bethlem myopathy. The 5′ breakpoints of both deletions are located within a minisatellite in intron 8. The mutations cause in‐frame deletions of 66 and 84 amino acids in the amino terminus of the triple‐helical domain, leading to intracellular accumulation of mutant polypeptides and reduced extracellular collagen VI microfibrils. Our studies identify a deletion‐prone region in COL6A1 and suggest that similar mutations can lead to congenital muscle disorders of different clinical severity. Ann Neurol 2005" @default.
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• W1979969441 date "2005-12-22" @default.
• W1979969441 modified "2023-10-17" @default.
• W1979969441 title "COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy" @default.
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• W1979969441 doi "https://doi.org/10.1002/ana.20705" @default.
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