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PubMed · 4810897

Midbrain ptosis. A case with clinicopathologic correlation.

J H Growdon·G F Winkler·S H Wray
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BlepharoptosisCerebrovascular DisordersFemaleHumansOculomotor NerveOphthalmoplegiaTegmentum MesencephaliTrochlear NerveJournal Article

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J H Growdon, G F Winkler, S H Wray. 1974. Midbrain ptosis. A case with clinicopathologic correlation.. https://doi.org/10.1001/archneur.1974.00490320067010

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Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)(6) is the normal repeat length. We investigated a Korean patient with OPMD and identified a novel mutation: a heterozygous insertion of a 9-bp sequence [(GCG)(GCA)(GCA); c.27_28insGCGGCAGCA] instead of the (GCG) repeat expansion, resulting in an in-frame insertion of three alanines (p.A10insAAA). To the best of our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.

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