×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
20880070
2011
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
20479361
2010
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
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.
19353676
2009
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
19428252
2009
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
18575922
2008
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.
18396044
2008
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
17614277
2007
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
16639411
2006
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
15668446
2005
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.
12921794
2003
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Clinical and molecular features of adPEO due to mutations in the Twinkle gene.
12163192
2002
×
Entrez Id:
56652
Gene Symbol:
TWNK
TWNK
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
0.700
GeneticVariation
UNIPROT
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
11431692
2001