J Korean Neurol Assoc.
2005 Apr;23(2):278-281.
A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene
- Affiliations
-
- 1Department of Neurology, Seoul Medical Center, Seoul, Korea.
- 2Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 3Department 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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
- Two Cases of Oculopharyngeal Muscular Dystrophy in One Family
- A Case of Oculopharyngeal Muscular Dystrophy
- A Case of the Oculopharyngeal Muscular Dystrophy
- A case of oculopharyngeal muscular dystrophy: electrophysiological review
