ReviewJournal of medical genetics1999
Mitochondrial DNA analysis: polymorphisms and pathogenicity.
Review in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed.
- Accumulation of mitochondrial DNA mutations in human immunodeficiency virus-infected patients treated with nucleoside-analogue reverse-transcriptase inhibitors.American journal of human genetics · 2003Trial
- Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.European journal of human genetics : EJHG · 2026Article
- Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.International journal of molecular sciences · 2022Article
- Quality Matters? The Involvement of Mitochondrial Quality Control in Cardiovascular Disease.Frontiers in cell and developmental biology · 2021Review
- Mitochondrial DNA Mutations and Rheumatic Heart Diseases.Journal of cardiovascular development and disease · 2019Article
- Article
- Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.PLoS genetics · 2018Article
- New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis.Frontiers in genetics · 2018Article
- Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2017Article
- Article
- Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.Genetics · 2016Article
- Parkinson's disease as a result of aging.Aging cell · 2015Review
- Point mutations associated with Leber hereditary optic neuropathy in a Latvian population.Molecular vision · 2013Article
- Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.Molecular vision · 2012Article
- No longitudinal mitochondrial DNA sequence changes in HIV-infected individuals with and without lipoatrophy.The Journal of infectious diseases · 2011Article
- Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited.Middle East African journal of ophthalmology · 2011Article
- A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.PloS one · 2010Article
- Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.Molecular vision · 2010Article
- Absence of mtDNA mutations in leukocytes of CADASIL patients.BMC research notes · 2008Article
- Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.The British journal of ophthalmology · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not easily matched to those of the more common mitochondrial disorders. We will describe here the difficulties that can be encountered during the identification of pathogenic mtDNA mutations and the approaches that can be used to confirm, or eliminate, a likely pathogenic role, in either single gene diseases or in multifactorial disorders.
Indexed as
Identifiers
10424809PMC1734403What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.