Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.
Neurol India
; 60(6): 631-4, 2012.
Article
en En
| MEDLINE
| ID: mdl-23287327
ABSTRACT
Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world. We report the first genetically proven case of DMRV from India in a 23-year-old male with gradual onset, progressive distal weakness of both lower limbs with features of inflammation in muscle biopsy.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Vacuolas
/
Miopatías Distales
/
Inflamación
/
Complejos Multienzimáticos
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Mutación
Límite:
Adult
/
Humans
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Male
Idioma:
En
Revista:
Neurol India
Año:
2012
Tipo del documento:
Article
País de afiliación:
India