A Case of Nonaka Myopathy Confirmed by GNE Mutation
Journal of the Korean Neurological Association
;
: 418-421, 2005.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fosfotransferases
/
Vacúolos
/
Biópsia
/
Miopatias Distais
/
Músculos
/
Doenças Musculares
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2005
Tipo de documento:
Artigo
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