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Oculopharyngeal muscular dystrophy (OPMD)‐report and genetic studies of an Australian kindred
Author(s) -
Teh Bin Tean,
Sullivan AliceAnn,
Farnebo Filip,
Zander Cecilia,
Li Fang Yuan,
Strachan Noela,
Schalling Martin,
Larsson Catharina,
Sandstrom Paul
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02415.x
Subject(s) - oculopharyngeal muscular dystrophy , muscular dystrophy , medicine , genetics , biology
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 14qll.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.