Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Abstract excerpt

BACKGROUND: The mitochondrial tRNALeu (MT-TL1) m.3243A > G mutation is one of the most frequent pathogenic variants in mtDNA which is associated with various clinical syndromes including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS). The onset of symptoms associated with the MT-TL1 mutation typically occurs in adolescence or early adulthood. Due to the diversity of its clinical...

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