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J Korean Neurol Assoc. 2005;23(2):278-281.
- A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene
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Jong Seok Bae
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Department of Neurology, Seoul Medical Center, Seoul;
Departments of Laboratory Medicine* and Neurology†, Samsung Medical Center,
Sungkyunkwan University School of Medicine, Seoul, Korea
- PABPN1 유전자검사로 진단된 안인두근이영양증 1예
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배종석, 김민기 기창석* 김종원* 김병준
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서울의료원 신경과, 성균관대학교 의과대학 삼성서울병원 진단검사의학교실*, 신경과학교실
- 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
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