Variant: rs111033572 

    present in Gene: TWNK
    present in Chromosome: 10
    Position on Chromosome: 100989823
    Alleles of this Variant: G/C

rs111033572 in TWNK gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 PMID 19353676 2009 Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

PMID 17614277 2007 Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.

PMID 11431692 2001 Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 15668446 2005 Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

PMID 12163192 2002 Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

PMID 12921794 2003 A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

PMID 18396044 2008 Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.

PMID 18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

PMID 19428252 2009 Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

PMID 20479361 2010 The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

PMID 20880070 2011 TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.