Oculopharyngeal muscular dystrophy: non-French-Canadian pedigrees.
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.
Creel
G B
GB
74th Medical Operations Squadron/SGOMU, Neurology Services, Wright-Patterson AFB, Ohio 45433, USA.
Giuliani
M J
MJ
Lacomis
D
D
Holbach
S M
SM
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