A Case of Nonaka Myopathy Confirmed by GNE Mutation
Journal of the Korean Neurological Association
;
: 418-421, 2005.
Article
Dans Coréen
| WPRIM
| ID: wpr-201268
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phosphotransferases
/
Vacuoles
/
Biopsie
/
Myopathies distales
/
Muscles
/
Maladies musculaires
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2005
Type:
Article
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