J Korean Neurol Assoc.
2005 Jun;23(3):418-421.
A Case of Nonaka Myopathy Confirmed by GNE Mutation
- Affiliations
-
- 1Department of Neurology, Seoul Veterans Hospital, Seoul, Korea. han4636@hanmail.net
- 2Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea.
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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Nonaka Myopathy: A case report
- Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report
- A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
- Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
- Progression of GNE Myopathy Based on the Patient-Reported Outcome
