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.
Artigo
em Chinês
| WPRIM
| ID: wpr-232234
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ataxia Cerebelar
/
Classificação
/
Genes Recessivos
/
Genética
/
Metabolismo
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Artigo
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