A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene.
- Author:
Jong Seok BAE
1
;
Min Ky KIM
;
Chang Seok KI
;
Jong Won KIM
;
Byoung Joon KIM
Author Information
1. Department of Neurology, Seoul Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Muscular dystrophy;
Oculopharyngeal;
PABPN1
- MeSH:
Deglutition Disorders;
Dysarthria;
Humans;
Korea;
Muscular Dystrophies;
Muscular Dystrophy, Oculopharyngeal*
- From:Journal of the Korean Neurological Association
2005;23(2):278-281
- CountryRepublic of Korea
- Language:Korean
-
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.
