title: Oculopharyngeal muscular dystrophy (OPMD)--report and genetic studies of an Australian kindred.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant disease. Due to a founder effect, it is most commonly found in the French Canadian population. The gene has recently been mapped to chromosome 14q11.2-q13 in some of these families. Here we report an Australian kindred of German descent with OPMD. Linkage analysis supports its locus to chromosome 14q. Repeat expansion studies were also carried out, but a CAG trinucleotide repeat expansion detected did not cosegregate with the disease. We conclude that there is no evidence of genetic heterogeneity or involvement of repeat expansion in OPMD.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: B T
authors.initials: BT
authors.lastname: Teh
authors.forename: A A
authors.initials: AA
authors.lastname: Sullivan
authors.forename: F
authors.initials: F
authors.lastname: Farnebo
authors.forename: C
authors.initials: C
authors.lastname: Zander
authors.forename: F Y
authors.initials: FY
authors.lastname: Li
authors.forename: N
authors.initials: N
authors.lastname: Strachan
authors.forename: M
authors.initials: M
authors.lastname: Schalling
authors.forename: C
authors.initials: C
authors.lastname: Larsson
authors.forename: P
authors.initials: P
authors.lastname: Sandstrom
mesh_terms: D001315:Australia; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D009801:Oculomotor Muscles / Q000503:physiopathology*; D010375:Pedigree; D010609:Pharyngeal Muscles / Q000503:physiopathology*; D018911:Trinucleotide Repeats