Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the m...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3424653/
https://ncbi.nlm.nih.gov/pubmed/22928142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/303096
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados