Article
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.
Annals of neurology - 1 Nov 1996
Stajich J M, Gilchrist J M, Lennon F, Lee A, Yamaoka L, Helms B, Gaskell P C, Donald L, Roses A D, Vance J M, Pericak-Vance M A
Abstract excerpt
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 shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained...
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