Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 660-662, 2008.
Artículo
en Chino
| WPRIM
| ID: wpr-307997
ABSTRACT
To date, nearly 28 distinct genetic loci of autosomal dominant cerebellar ataxias have been identified, among them 18 disease-causing genes have been cloned. Of these, Machado-Joseph disease (MJD), also named as spinocerebellar ataxia type 3 (SCA3), is perhaps the most common subtype among different races and origins in the world. It is a neurodegenerative disease caused by the expansion of a CAG repeat in the coding region of the MJD1 gene, with obvious clinical and genetic heterogeneity. In this review, authors covered the recent advances in molecular genetic of SCA3/MJD.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Proteínas Represoras
/
Proteínas Nucleares
/
Química
/
Enfermedad de Machado-Joseph
/
Ataxina-3
/
Genética
/
Metabolismo
/
Biología Molecular
/
Mutación
/
Proteínas del Tejido Nervioso
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2008
Tipo del documento:
Artículo
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