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COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
- Source :
-
Annals of neurology [Ann Neurol] 2006 Jan; Vol. 59 (1), pp. 190-5. - Publication Year :
- 2006
-
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.
- Subjects :
- Adult
Amino Acid Sequence
Base Sequence
Cells, Cultured
Child
Child, Preschool
DNA Mutational Analysis
Exons
Female
Fibroblasts cytology
Fibroblasts metabolism
Humans
Infant
Introns
Male
Molecular Sequence Data
Collagen Type VI genetics
Gene Deletion
Muscular Diseases genetics
Muscular Dystrophies genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 0364-5134
- Volume :
- 59
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Annals of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 16278855
- Full Text :
- https://doi.org/10.1002/ana.20705