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"Young-Eun Kim"

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"Young-Eun Kim"

Brief Communication

Late-Onset Myopathic form of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Linked to Compound Heterozygous Variants in ACADVL
Wonjae Sung, Young-Eun Kim, Seung Hyun Kim
Korean J Neuromuscul Disord 2022;14(2):42-44.   Published online December 31, 2022
DOI: https://doi.org/10.46518/kjnmd.2022.14.2.42
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Case Report
Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
Wonjae Sung, Young-Eun Kim, Seung Hyun Kim
Korean J Neuromuscul Disord 2021;13(1):11-14.   Published online June 30, 2021
DOI: https://doi.org/10.46518/kjnmd.2021.13.1.11
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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