title: Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.
abstract: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.
authors.affiliation: Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Young-Ah
authors.initials: YA
authors.lastname: Choi
authors.affiliation: Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Sung-Hye
authors.initials: SH
authors.lastname: Park
authors.affiliation: Department of Rehabilitation Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Youbin
authors.initials: Y
authors.lastname: Yi
authors.affiliation: Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea. ; Department of Biomedical Engineering, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Keewon
authors.initials: K
authors.lastname: Kim
keywords: Distal myopathy with rimmed vacuoles; GNE myopathy; Hereditary inclusion body myopathy