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
em Zh
| WPRIM
| ID: wpr-234319
Biblioteca responsável:
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
Base de dados:
WPRIM
Assunto principal:
Patologia
/
Ataxia
/
Tremor
/
Diagnóstico
/
Proteína do X Frágil da Deficiência Intelectual
/
Síndrome do Cromossomo X Frágil
/
Genética
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Article