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Oculopharyngeal muscular dystrophy is a late-onset,autosomally dominant disorder characterized by progressive ptosis,dysphagia,and extremity weakness.Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French Canadian families.Haplotype analysis in these data show a single segregating disease chromosome,suggesting a founder effect in this population.We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy.Four of the 5 families have known French Canadian Ancestry while the fifth is of English/Scottish origin.A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2-q13.The English/Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin.These data suggest that this family may represent a second,possibly independent mutation in this disorder. |
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