Korean J Neuromuscul Disord.
2021 Jun;13(1):11-14. 10.46518/kjnmd.2021.13.1.11.
Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
- Affiliations
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- 1Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea
- 2Department of Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Korea
- KMID: 2518422
- DOI: http://doi.org/10.46518/kjnmd.2021.13.1.11
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.
