OCULOPHARYNGEAL MUSCULAR-DYSTROPHY (OPMD) - REPORT AND GENETIC-STUDIES OF AN AUSTRALIAN KINDRED

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal do minant disease. Due to a founder effect, it is most commonly found in the French Canadian population. The gene has recently been mapped to c hromosome 14q11.2-q13 in some of these families. Here we report an Aus tralian kindred of German descent with OPMD. Linkage analysis supports its focus to chromosome 14q. Repeat expansion studies were also carri ed out, but a CAG trinucleotide repeat expansion detected did not cose gregate with the disease. We conclude that there is no evidence of gen etic heterogeneity or involvement of repeat expansion in OPMD.