A Case of Nonaka Myopathy Confirmed by GNE Mutation.
- Author:
Young Su HAN
1
;
Doo Eung KIM
;
Jung Mee KIM
;
Jeong Seon CHO
;
Jeong Ho HAN
;
Eun Kyoung CHO
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Neurology, Seoul Veterans Hospital, Seoul, Korea. han4636@hanmail.net
- Publication Type:Case Report
- Keywords:
Nonaka myopathy;
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
- MeSH:
Biopsy;
Distal Myopathies;
Humans;
Muscles;
Muscular Diseases*;
Phosphotransferases;
Vacuoles
- From:Journal of the Korean Neurological Association
2005;23(3):418-421
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessively inherited neuromuscular disorder characterized by early adult-onset weakness of distal muscles, rimmed vacuoles in muscle biopsy, and mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. The authors describe a patient with typical clinical features of NM confirmed by GNE mutation. Mutation analysis of the GNE gene revealed that the patient was a compound heterozygous for V572L and C13S mutations.
