ArticleActa neurologica Scandinavica2021
Progressive external ophthalmoplegia associated with novel MT-TN mutations.
Article in Acta neurologica Scandinavica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- COA6 promotes the oncogenesis and progression of breast cancer by oxidative phosphorylation pathway.Journal of Cancer · 2024Article
- High Expression of COA6 Is Related to Unfavorable Prognosis and Enhanced Oxidative Phosphorylation in Lung Adenocarcinoma.International journal of molecular sciences · 2023Article
- Progressive external ophthalmoplegia.Handbook of clinical neurology · 2023Review
- Remarks on Mitochondrial Myopathies.International journal of molecular sciences · 2022Review
- Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.Brain pathology (Zurich, Switzerland) · 2022Article
- Molecular Genetics Overview of Primary Mitochondrial Myopathies.Journal of clinical medicine · 2022Review
- Role of the mtDNA Mutations and Mitophagy in Inflammaging.International journal of molecular sciences · 2022Review
- Article
- Progressive external ophthalmoplegia associated with novel MT-TN mutations.Acta neurologica Scandinavica · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesTo describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNA MATERIALS &
methodsTwo unrelated patients with PEO were clinically examined. Muscle biopsy was performed and investigated by exome sequencing, enzyme histochemistry, and immunohistochemistry. The level of heteroplasmy was investigated in single muscle fibers and in other tissues.
resultsPatient 1 was a 52-year-old man with ptosis, PEO, and exercise intolerance since childhood. Muscle biopsy demonstrated mitochondrial myopathy with frequent cytochrome c oxidase (COX)-deficient fibers and a heteroplasmic mutation, m.5669G>A in the MT-TN gene, resulting in a substitution of a highly conserved C to T in the T stem of tRNA
conclusionWe describe two MT-TN mutations associated with PEO and mitochondrial myopathy, and their pathogenicity was demonstrated. Together with previous reports, the results indicate that MT-TN is a hot spot for mutations causing sporadic PEO.
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