Variant: rs1554887213 

    present in Gene: TWNK
    present in Chromosome: 10
    Position on Chromosome: 100989774
    Alleles of this Variant: G/T

rs1554887213 in TWNK gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1554887213 in TWNK gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 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 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 17614277 2007 Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.

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

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

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.