ArticleClinical genetics2022
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.Clinical genetics · 2022Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
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Abstract
Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.
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Registered trials
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