title: Oculopharyngeal muscular dystrophy: non-French-Canadian pedigrees.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestors were immigrants to the United States from Italy and Normandy. The Norman pedigree does not share the French-Canadian haplotype. OPMD appears to be a heterogeneous disorder with similar phenotypes, but probably with different gene loci.
authors.affiliation: 74th Medical Operations Squadron/SGOMU, Neurology Services, Wright-Patterson AFB, Ohio 45433, USA.
authors.forename: G B
authors.initials: GB
authors.lastname: Creel
authors.forename: M J
authors.initials: MJ
authors.lastname: Giuliani
authors.forename: D
authors.initials: D
authors.lastname: Lacomis
authors.forename: S M
authors.initials: SM
authors.lastname: Holbach
mesh_terms: D000368:Aged; D002170:Canada; D004576:Electromyography; D005260:Female; D005602:France / Q000208:ethnology; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000473:pathology; D009801:Oculomotor Muscles / Q000473:pathology*; D010609:Pharyngeal Muscles / Q000473:pathology*; D014481:United States