Variant: rs80356542 

    present in Gene: MRPL43;TWNK
    present in Chromosome: 10
    Position on Chromosome: 100989162
    Alleles of this Variant: G/A

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.