| Literature DB >> 8817344 |
M C Speer1, R Tandan, P N Rao, T Fries, J M Stajich, P A Bolhuis, G J Jöbsis, J M Vance, K D Viles, K Sheffield, C James, S G Kahler, M Pettenati, J R Gilbert, P H Denton, L H Yamaoka, M A Pericak-Vance.
Abstract
The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the alpha 1 and alpha 2 subunits of type VI collagen (COL6A1 and COL6A2) have been postulated as candidate genes. We investigate a large family of French Canadian descent (family 1489) in which the Bethlem myopathy is segregating. Family 1489 is unlinked to the region of interest on 21q, thus demonstrating locus heterogeneity within the Bethlem myopathy classification. In view of the localization of the genes coding the alpha 1 and alpha 2 subunits of type VI collagen on chromosome 21q, we carried out linkage analysis on chromosome 2q where the alpha 3 subunit of type VI collagen has been localized. We demonstrate linkage to markers in this region, define the region of disease gene localization, and confirm by FISH analysis that COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy.Entities:
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Year: 1996 PMID： 8817344 DOI： 10.1093/hmg/5.7.1043
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150