Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.
10.5535/arm.2015.39.3.494
- Author:
Young Ah CHOI
1
;
Sung Hye PARK
;
Youbin YI
;
Keewon KIM
Author Information
1. Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea. keewonkimm.d@gmail.com
- Publication Type:Case Report
- Keywords:
GNE myopathy;
Hereditary inclusion body myopathy;
Distal myopathy with rimmed vacuoles
- MeSH:
Age of Onset;
Biopsy;
Electromyography;
Female;
Foot;
Glucosamine;
Humans;
Japan;
Korea;
Middle Aged;
Muscular Diseases;
N-Acetylneuraminic Acid;
Phosphotransferases
- From:Annals of Rehabilitation Medicine
2015;39(3):494-497
- CountryRepublic of Korea
- Language:English
-
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.
