Nonaka Myopathy: A case report
Journal of the Korean Academy of Rehabilitation Medicine
;
: 288-291, 2004.
Artículo
en Coreano
| WPRIM
| ID: wpr-723191
ABSTRACT
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients with NM usually showed slightly elevated serum creatine kinase (CK) levels and characteristic rimmed vacuoles in muscle biopsy. Recently, the UDP-N-acetylglucosamine-2-epimerase/N-ace-tylmannosamine kinase (GNE) gene was identified as the identified as the causative gene for NM. Here we reported a NM patient carrying homozygous mutations (V572L) of the GNE gene. To the best of our knowledge, this was the first report of genetically confirmed NM in Korea and NM should be included in the differential diagnosis of slowly progressive weakness of distal legs.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fosfotransferasas
/
Vacuolas
/
Biopsia
/
Creatina Quinasa
/
Miopatías Distales
/
Diagnóstico Diferencial
/
Músculo Cuádriceps
/
Corea (Geográfico)
/
Pierna
/
Enfermedades Musculares
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Academy of Rehabilitation Medicine
Año:
2004
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS