Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 673-676, 2012.
Article
em Zh
| WPRIM
| ID: wpr-232234
Biblioteca responsável:
WPRO
ABSTRACT
Autosomal recessive cerebellar ataxias (ARCA) are a highly heterogeneous group of rare neurodegenerative diseases affecting both central and peripheral nervous systems. Based on pathological mechanisms, five major types of ARCA may be distinguished, which include mitochondrial ataxia, metabolic disorder, DNA repair defect ataxia, congenital ataxias and degenerative ataxia. This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Ataxia Cerebelar
/
Classificação
/
Genes Recessivos
/
Genética
/
Metabolismo
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Article