Fragile X-associated tremor/ataxia syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 52-55, 2011.
Article
en Zh
| WPRIM
| ID: wpr-234319
Biblioteca responsable:
WPRO
ABSTRACT
Fragile X-associated tremor/ataxia syndrome(FXTAS) is a neurodegenerative disease caused by FMR1 gene permutation(PM). The main clinical manifestations are intention tremor and/or ataxia, and the pathogenesis was related to RNA toxicity. In this paper, the research progress of clinical manifestatios, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Patología
/
Ataxia
/
Temblor
/
Diagnóstico
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Síndrome del Cromosoma X Frágil
/
Genética
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2011
Tipo del documento:
Article