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Novel M.3764c>g Variant in MT-ND1 Linked to Severe MELAS Syndrome: A Case Report

Teona Shatirishvili, Zura Katsitadze,Yi Shiau Ng, Ashwin Achuthaprasad,Charlotte L. Alston, Emma L. Blakey, Douglass M. Turnbull,Kakha Bregvadze,Tinatin Tkemaladze,Nana Nino Tatishvili

Brain and Development Case Reports(2025)

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关键词
MELAS,Mitochondrial encephalomyopathy,MT-ND1 gene,Epilepsy,Stroke-like episodes
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