Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

@inproceedings{Hartley2012NovelAR,
  title={Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia},
  author={Jessica N. Hartley and Frances A. Booth and Marc R Del Bigio and Aizeddin A. Mhanni},
  booktitle={Case reports in pediatrics},
  year={2012}
}
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 mtDNA helicase gene, c10orf2, with an increased frequency in… CONTINUE READING