Mitochondrial Diseases
|
|
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Sensorineural hearing loss, bilateral
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Abnormal mitochondria in muscle tissue
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Neuromuscular dysphagia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Bilateral ptosis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Chronic progressive external ophthalmoplegia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
EMG: myopathic abnormalities
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Dysphonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Depressive disorder
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|