Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
10.46518/kjnmd.2021.13.1.11
- Author:
Wonjae SUNG
1
;
Young-Eun KIM
;
Seung Hyun KIM
Author Information
1. Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea
- Publication Type:Case Report
- From:
Korean Journal of Neuromuscular Disorders
2021;13(1):11-14
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.
