A Case of Nonaka Myopathy Confirmed by GNE Mutation
Journal of the Korean Neurological Association
; : 418-421, 2005.
Article
in Ko
| WPRIM
| ID: wpr-201268
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Phosphotransferases
/
Vacuoles
/
Biopsy
/
Distal Myopathies
/
Muscles
/
Muscular Diseases
Limits:
Humans
Language:
Ko
Journal:
Journal of the Korean Neurological Association
Year:
2005
Type:
Article