6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
March 2024 in “International journal of molecular sciences” This review summarizes current literature associating mitochondrial dysfunction with dermatologic issues like skin aging, hair loss, and poor wound healing, noting potential benefits in targeting mitochondrial components for treatments.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.