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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Bibliographic Details
Main Authors: Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.
Format: Artigo
Language:Inglês
Published: Hindawi Publishing Corporation 2012
Subjects:
Case Report
Online Access: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
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