A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

scientific article

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1086/302445
P932PMC publication ID1378100
P698PubMed publication ID10364542
P5875ResearchGate publication ID12933556

P2093author name stringL Peltonen
A Suomalainen
M Zeviani
G P Comi
J Kaukonen
M G Piscaglia
P2860cites workLocation of facioscapulohumeral muscular dystrophy gene on chromosome 4.Q55052229
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionQ57588514
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocatorQ61874674
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadismQ71021578
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)Q22003951
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorderQ22008732
Strategies for multilocus linkage analysis in humansQ27860521
A comprehensive genetic map of the human genome based on 5,264 microsatellitesQ27860812
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4Q28242420
An autosomal locus predisposing to deletions of mitochondrial DNAQ28300006
Computer-simulation methods in human linkage analysisQ33867255
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.Q34386670
Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridizationQ34410475
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegiaQ35603406
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndromeQ37353478
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studiesQ43484805
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked diseaseQ48718783
Avoiding recomputation in linkage analysis.Q52374502
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectautosomal dominant progressive external ophthalmoplegiaQ55950270
P304page(s)256-61
P577publication date1999-07-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleA third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
P478volume65

Reverse relations

cites work (P2860)
Q37774749A neurological perspective on mitochondrial disease.
Q34138193A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions
Q28216954Clinical and molecular features of adPEO due to mutations in the Twinkle gene
Q34386744Diseases caused by nuclear genes affecting mtDNA stability
Q33516950EFNS guidelines on the molecular diagnosis of mitochondrial disorders
Q43744100Fluorometric detection of ADP/ATP carrier deficiency in human muscle.
Q28204177Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
Q46667481Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.
Q34692482Inherited mitochondrial diseases of DNA replication
Q92502784Mitochondrial carrier protein overloading and misfolding induce aggresomes and proteostatic adaptations in the cytosol
Q78517318Mitochondrial diseases
Q35038630Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features
Q82029875Mitochondrial encephalomyopathies
Q35685889Mitochondriopathies
Q34082583Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Q34147661Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Q53612457Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Q35166737Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification
Q54687587Proteomic analysis of cancer-cell mitochondria
Q74163466Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes
Q35022544Substoichiometric shifting in the plant mitochondrial genome is influenced by a gene homologous to MutS
Q37425025Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina
Q34013518The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
Q35172406The neurology of mitochondrial DNA disease.
Q43887789The nuclear genome is involved in heteroplasmy control in a mitochondrial mutant strain of Drosophila subobscura

Search more.