Condition: Infantile onset spinocerebellar ataxia
rs80356542 in
MRPL43;TWNK gene and
Infantile onset spinocerebellar ataxia
PMID 17722119 2007 Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
PMID 19853444 2009 Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.
PMID 17921179 2007 Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
PMID 22353293 2012 Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.
PMID 16135556 2005 Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
rs386834145 in
TWNK gene and
Infantile onset spinocerebellar ataxia
PMID 16135556 2005 Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
PMID 17722119 2007 Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
PMID 17921179 2007 Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
PMID 19853444 2009 Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.
PMID 22353293 2012 A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands.
PMID 22353293 2012 Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.
PMID 16135556 2005 This allele is expressed at a reduced level, causing the preponderance of messenger RNAs encoding Y508C polypeptides and thus leads to the IOSCA disease phenotype.
rs374997012 in
TWNK;MRPL43 gene and
Infantile onset spinocerebellar ataxia
PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.