De Novo Mutation in the Mitochondrial tRNA Leu(UUR) Gene (A3243G) with Rapid Segregation Resulting in MELAS in the Offspring

    February 2001 in “ Journal of paediatrics and child health ”
    Chih-Hsin Ko, Ching‐Wan Lam, P. Tse … Lee Jun Wong
    Studysummary 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.
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