Article
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.
Neuromuscular disorders : NMD - 1 Oct 1997
Stajich J M, Gilchrist J M, Lennon F, Lee A, Yamaoka L, Rosi B, Gaskell P C, Pritchard M, Donald L, Roses A D, Vance J M, Pericak-Vance M A
Abstract excerpt
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of OPMD to 14q11.2-q13 has been reported in a series of French-Canadian families. Tightly linked markers have been defined and hap...
Topics
- Adult
- Age of Onset
- Chromosomes, Human, Pair 14
- Family Health
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Middle Aged
- Muscular Dystrophies
- Mutation
- Oculomotor Muscles
- Pedigree