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| Korean Journal of Neuromuscular Disorders ; 13 : 1 - 4, June 2021 |
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| Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course |
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| Wonjae Sung, MD1, Young-Eun Kim, MD, PhD2, Seung Hyun Kim, MD, PhD1 |
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| Departments of 1Neurology, 2Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Korea |
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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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