PubMed · 5065578
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
M Yamamoto, A Tabuchi. 1972. [Congenital ptosis].. https://pubmed.ncbi.nlm.nih.gov/5065578/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
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.
Explore the source record for details and available documents.
Explore the source record for details and available documents.