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Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
Joint Authors
Del Bigio, Marc R.
Hartley, Jessica N.
Booth, Frances A.
Mhanni, Aizeddin A.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-08-11
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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 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.
American Psychological Association (APA)
Hartley, Jessica N.& Booth, Frances A.& Del Bigio, Marc R.& Mhanni, Aizeddin A.. 2012. Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. Case Reports in Pediatrics،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-461760
Modern Language Association (MLA)
Hartley, Jessica N.…[et al.]. Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. Case Reports in Pediatrics No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-461760
American Medical Association (AMA)
Hartley, Jessica N.& Booth, Frances A.& Del Bigio, Marc R.& Mhanni, Aizeddin A.. Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. Case Reports in Pediatrics. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-461760
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-461760