ArticleFrontiers in integrative neuroscience2025
Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review.
Article in Frontiers in integrative neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Mitochondrial encephalomyopathy caused by a novel ACAD9 mutation: a case report.Frontiers in human neuroscience · 2026Article
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Abstract
Mitochondrial encephalomyopathy is a complex disorder with heterogeneous clinical manifestations that often complicate its clinical diagnosis. We report the first documented case of a 52-year-old woman harboring a novel and rare genotypic combination: the m.10158T>C point mutation together with a 12.8-kb large-scale mtDNA deletion. After a protracted diagnostic course involving multiple prior misdiagnoses, the definitive diagnosis was ultimately established through integrated genetic, histopathological, and neuroimaging evaluation. This case underscores both the diagnostic challenges in mitochondrial disorders and the critical need for systematic differentiation from common neurological mimics such as encephalitis and stroke.
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