| Literature DB >> 8358441 |
L Carrier1, C Hengstenberg, J S Beckmann, P Guicheney, C Dufour, J Bercovici, E Dausse, I Berebbi-Bertrand, C Wisnewsky, D Pulvenis.
Abstract
Familial hypertrophic cardiomyopathy (FHC) is a cardiac disorder transmitted as an autosomal dominant trait. FHC has been shown to be genetically heterogeneous with less than 50% of published pedigrees being associated with mutations in the beta myosin heavy chain (beta-MHC) gene on chromosome 14q11-q12. A second locus has recently been reported on chromosome 1. We examined the segregation of microsatellite markers in a French pedigree for which the disease is not linked to beta-MHC gene. We found significant linkage of the disease locus to several (CA)n repeats located on chromosome 11 (lod scores between +3.3 and +4.98). The data suggest the localization of the novel FHC gene in a region spanning 17 centiMorgans.Entities:
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Year: 1993 PMID: 8358441 DOI: 10.1038/ng0793-311
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330