Research paperAtypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
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2019, MitochondrionCitation Excerpt :In cases of maternal (mitochondrial) inheritance, CPEO is typically associated with heteroplasmic pathogenic mtDNA variants that often affect mitochondrial transfer RNA (tRNA) genes (Sotiriou et al., 2009). The most common of these variants, reported to be present in up to 15% of CPEO patients, is m.3243A>G, associated with Mitochondrial myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) (Moraes et al., 1993). Autosomally inherited CPEO tends to be caused by defects to the nuclear genes involved in mtDNA maintenance, thus predisposing individuals to the formation of multiple secondary mtDNA deletions over time (Chinnery et al., 2004).
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