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COL6A1 genomic deletions in bethlem myopathy and ullrich muscular dystrophy

Lookup NU author(s): Emerita Professor Katherine Bushby

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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. © 2005 American Neurological Association.

Publication metadata

Author(s): Pepe G, Lucarini L, Zhang R-Z, Pan T-C, Giusti B, Quijano-Roy S, Gartioux C, Bushby KMD, Guicheney P, Chu M-L

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2006

Volume: 59

Issue: 1

Pages: 190-195

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/ana.20705

DOI: 10.1002/ana.20705

PubMed id: 16278855

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