ReviewJournal of pediatric genetics2024
Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A.
Review in Journal of pediatric genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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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.
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Who cites it
5 citing papers in PubMed.
- Intrafamilial phenotypic heterogeneity in carriers of the m.3303C > T mutation cannot be explained solely by heteroplasmy levels.Molecular genetics and metabolism reports · 2026Article
- Many Factors Determine Phenotypic Heterogeneity in LHON [Letter].International medical case reports journal · 2026Article
- Rewriting nuclear epigenetic scripts in mitochondrial diseases as a strategy for heteroplasmy control.EMBO molecular medicine · 2025Article
- Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.International journal of molecular sciences · 2025Article
- Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mitochondrial DNA (mtDNA) variant m.13513G > A is increasingly recognized as a cause of syndromic and nonsyndromic mitochondrial disorders (MIDs). This minireview aims a summarizing and discussing recent and previous findings about the phenotypic heterogeneity of this variant. A systematic literature review using the databases PubMed and Google Scholar by application of specific search terms was performed. As per the end of July 2021, at least 50 patients carrying the mtDNA variant m.13513G > A have been reported. Age ranged between 0 and 63 years, and of these patients, 28 were male and 22 were female. The phenotype was highly variable. The most common phenotypes were Leigh syndrome (LS;
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Registered trials
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