Oculopharyngeal Muscular Dystrophy (OPMD)
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Overview
From WUSTL Neuromuscular● Other locus HNRNPA2B1 Differential diagnosis Epidemiology OPMD is common in French-Canadians (1:1,000) Bukhara Jews in Israel (1:600) OPMD is caused by two distinct founder GCG9 mutations in these 2 populations New Mexico Hispanics: GCG9 mutation Louisiana Cajun: GCA containing repeats Japan: GCA containing repeats Netherlands European prevalence: 1 in 100,000 Recessive OPMD: 1 in 10,000 in Quebec; Rare elsewhere (GCN)11 allele: 0.05% frequency in the Thai population. Genetics Common mutations Expansions of GCG trinucleotide repeat in exon 1 Meiotically stable Generational effects: Usually s
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.