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J Korean Neurol Assoc. 2005 Apr;23(2):278-281. Korean. Case Report.
Bae JS , Kim MK , Ki CS , Kim JW , Kim BJ .
Department of Neurology, Seoul Medical Center, Seoul, Korea.
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. bjkim@smc.samsung.co.kr
Abstract

We recently encountered a Korean patient with oculopharyngeal muscular dystrophy (OPMD). His major clinical manifestations were late onset bilateral ptosis, dysarthria, and dysphagia. Direct sequencing analysis of the PABPN1 gene demonstrated a heterozygous insertion of 9 bp sequence [(GCG)(GCA)(GCA); c.28insGCGGCA GCA], resulting in an in-frame insertion of 3 alanines (p. A10insAAA). To our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.

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