Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

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dc.contributor.authorHartley, Jessica N.
dc.contributor.authorBooth, Frances A.
dc.contributor.authorDel Bigio, Marc R.
dc.contributor.authorMhanni, Aizeddin A.
dc.date.accessioned2015-05-14T16:30:02Z
dc.date.available2015-05-14T16:30:02Z
dc.date.issued2012-8-11
dc.date.updated2015-03-29T13:31:58Z
dc.description.abstractRecessive 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 the Finnish population due to a founder mutation. We describe a child of English descent who presented with a severe phenotype of IOSCA as a result of two-novel mutations in the c10orf2 gene. This paper expands the phenotypic spectrum of IOSCA and adds further evidence for the presence of a genotype-phenotype correlation among patients with recessive mutations in this gene.
dc.description.versionPeer Reviewed
dc.identifier.citationJessica N. Hartley, Frances A. Booth, Marc R. Del Bigio, and Aizeddin A. Mhanni, “Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia,” Case Reports in Pediatrics, vol. 2012, Article ID 303096, 4 pages, 2012. doi:10.1155/2012/303096
dc.identifier.urihttp://dx.doi.org/10.1155/2012/303096
dc.identifier.urihttp://hdl.handle.net/1993/30496
dc.language.rfc3066en
dc.rightsopen accessen_US
dc.rights.holderCopyright © 2012 Jessica N. Hartley et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.titleNovel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
dc.typeJournal Article
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