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KMID : 1035220210130010011
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Korean Journal of Neuromuscular Disorders
2021 Volume.13 No. 1 p.11 ~ p.14
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Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
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Sung Won-Jae
Kim Young-Eun
Kim Seung-Hyun
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Abstract
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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.
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KEYWORD
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Muscular dystrophy, oculopharyngeal, PABPN1, Polyalanine
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