ArticleJAMA neurology2013
Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.
Article in JAMA neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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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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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- A systematic review on the biochemical threshold of mitochondrial genetic variants.Genome research · 2024Pooled it
- Middle-aged woman presenting with new-onset status epilepticus and family history of MELAS syndrome but negative mtDNA testing.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality.Scientific reports · 2018Article
- Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Neuropsychiatric disease and treatment · 2017Article
- Disentangling (Epi)Genetic and Environmental Contributions to the Mitochondrial 3243A>G Mutation Phenotype: Phenotypic Destiny in Mitochondrial Disease?JAMA neurology · 2016Article
- Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy.Journal of neurology · 2015Article
- Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation.Scientific reports · 2015Article
- Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.International journal of clinical and experimental pathology · 2015Article
- Mitochondrial DNA mutation load: chance or destiny?JAMA neurology · 2013Article
- A De Novo Mutation inChild neurology openArticle
- Leber Hereditary Optic Neuropathy "Plus" with the m.14487 T>C Mutation as the Causality of Hemidystonia: A Case Report.Case reports in ophthalmologyArticle
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8 authors at 4 institutions in 2 countries.
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Abstract
importanceMitochondrial DNA (mtDNA) disorders have emerged as major causes of inherited neurologic disease. Despite being well recognized for more than 2 decades, the clinical presentation continues to broaden. The phenotypic heterogeneity is partly owing to different percentage levels of mutant mtDNA heteroplasmy in different tissues, but the factors influencing this are poorly understood. OBSERVATIONS: This case report describes monozygotic male twins with ptosis, optic atrophy, and recent-onset intractable myoclonic epilepsy. The assessment of respiratory chain enzyme activities in the muscle from 1 twin revealed a severe and isolated defect involving mitochondrial complex I. Mitochondrial DNA sequencing revealed a pathogenic m.14487T>C MTND6 mutation, which was present at very high levels of heteroplasmy in muscle (84%) and lower levels in blood (15%), urinary epithelium (75%), and buccal mucosa (58%). Of particular interest, his identical twin was found to harbor very similar levels of the m.14487T>C mutation in his blood, urine, buccal mucosa, and hair follicle DNA samples, while the presence of low levels in the mother's tissues confirmed maternal transmission. CONCLUSIONS AND RELEVANCE: It was shown that m14487T>C can also cause the unusual combination of optic atrophy, ptosis, and encephalomyopathy leading to intractable seizures. Near-identical heteroplasmy levels in different tissues in both siblings support a nuclear genetic mechanism controlling the tissue segregation of mtDNA mutations.
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