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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| Main Authors: | , , , |
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| Format: | Book |
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Hindawi Limited,
2012-01-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_f40c9e2bd7c0438b9f7d413df627bf9d | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Jessica N. Hartley |e author |
| 700 | 1 | 0 | |a Frances A. Booth |e author |
| 700 | 1 | 0 | |a Marc R. Del Bigio |e author |
| 700 | 1 | 0 | |a Aizeddin A. Mhanni |e author |
| 245 | 0 | 0 | |a Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia |
| 260 | |b Hindawi Limited, |c 2012-01-01T00:00:00Z. | ||
| 500 | |a 2090-6803 | ||
| 500 | |a 2090-6811 | ||
| 500 | |a 10.1155/2012/303096 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Case Reports in Pediatrics, Vol 2012 (2012) | |
| 787 | 0 | |n http://dx.doi.org/10.1155/2012/303096 | |
| 787 | 0 | |n https://doaj.org/toc/2090-6803 | |
| 787 | 0 | |n https://doaj.org/toc/2090-6811 | |
| 856 | 4 | 1 | |u https://doaj.org/article/f40c9e2bd7c0438b9f7d413df627bf9d |z Connect to this object online. |