A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene

J Korean Neurol Assoc > Volume 23(2); 2005 > Article

Journal of the Korean Neurological Association 2005;23(2): 278-281.

PABPN1 유전자검사로 진단된 안인두근이영양증 1예

배종석, 김민기 기창석* 김종원* 김병준

서울의료원 신경과, 성균관대학교 의과대학 삼성서울병원 진단검사의학교실*, 신경과학교실

A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene

Jong Seok Bae

Department of Neurology, Seoul Medical Center, Seoul; Departments of Laboratory Medicine* and Neurology†, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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.KeyWords:Muscular dystrophy, Oculopharyngeal, PABPN1