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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...

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Detalles Bibliográficos
Autores principales:	Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3424653/ https://www.ncbi.nlm.nih.gov/pubmed/22928142 http://dx.doi.org/10.1155/2012/303096

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