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.
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Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies Pattira Boonsri, Suppakorn Yamutai, Pramot Tanutit, Jirakit Sattayapornpipat, Chariyawan Charalsawadi, Prut Koonalintip, Pornchai Sathirapanya, Suwanna Setthawatcharawanich, Rattana Leelawattana, Pat Korathanakhun, Vinay Kumar PLOS One.2026; 21(1): e0341031. CrossRef
GNE myopathy with premature ovarian failure: Case report and review of the literature Shangyi Yang, Jine Yang Molecular Genetics and Metabolism Reports.2025; 44: 101240. CrossRef
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy Nasrin Tamanna, Byung Kwon Pi, Ah Jin Lee, Sumaira Kanwal, Byung-Ok Choi, Ki Wha Chung Genes.2024; 15(4): 485. CrossRef
GNE myopathy (Nonaka myopathy)
G.E. Rudenskaya, A.L. Chukhrova, O.P. Ryzhkova Annals of Clinical and Experimental Neurology.2019;[Epub] CrossRef
GNE myopathy: from clinics and genetics to pathology and research strategies Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos Orphanet Journal of Rare Diseases.2018;[Epub] CrossRef
Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy Yuan Wu, Lamei Yuan, Yi Guo, Anjie Lu, Wen Zheng, Hongbo Xu, Yan Yang, Pengzhi Hu, Shaojuan Gu, Bingqi Wang, Hao Deng Journal of Cellular and Molecular Medicine.2018; 22(11): 5533. CrossRef
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan Case Reports in Neurological Medicine.2016; 2016: 1. CrossRef
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients with NM usually showed slightly elevated serum creatine kinase (CK) levels and characteristic rimmed vacuoles in muscle biopsy. Recently, the UDP-N-acetylglucosamine-2-epimerase/N-ace- tylmannosamine kinase (GNE) gene was identified as theidentified as the causative gene for NM. Here we reported a NM patient carrying homozygous mutations (V572L) of the GNE gene. To the best of our knowledge, this was the first report of genetically confirmed NM in Korea and NM should be included in the differential diagnosis of slowly progressive weakness of distal legs. (J Korean Acad Rehab Med 2004; 28: 288-291)
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