ArticleInternal medicine (Tokyo, Japan)
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
Article in Internal medicine (Tokyo, Japan). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review.Frontiers in integrative neuroscience · 2025Article
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Elderly onset of MELAS in a male: A case report.Frontiers in neurology · 2022Article
- Novel Mutation m.10372A>G inNeurology. Genetics · 2021Article
- Review
- Adult-onset mitochondrial encephalopathy in association with theWorld journal of clinical cases · 2019Article
- Non-traumatic and non-drug-induced rhabdomyolysis.Archives of medical sciences. Atherosclerotic diseases · 2019Article
- Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.BMC neurology · 2017Article
- Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy.Internal medicine (Tokyo, Japan) · 2017Article
- Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy.Internal medicine (Tokyo, Japan) · 2017Article
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Abstract
The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m.10158T>C mutation in the mitochondrial complex I subunit gene, MT-ND3. To prevented further deterioration of the higher brain function, the early diagnosis and treatment of mitochondrial stroke-like episodes is important.
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