Skip to main content
. 2025 Jun 5;26(11):5411. doi: 10.3390/ijms26115411

Figure 3.

Figure 3

Main genetics of primary mitochondrial myopathy syndromes. This figure highlights the most common genetic factors associated with primary mitochondrial myopathy syndromes. Complex I genes are indicated in red, complex V genes are in green, tRNA genes are in yellow and nuclear gene is in blue. CPEO: chronic progressive external ophthalmoplegia: m.3243A>G, m.3243A>T, m.4298G>A, m.4308G>A, m.5690A>G, m.5703G>A, m.12276G>A, m.12294G>A, m.12315G>A, m.12316G>A (MT-TL1, MT-TI, MT-TN, MT-TL2 genes), LHON: Leber’s hereditary optic neuropathy: m.3460G>A (MTND1 gene), m.14484T>C (MTND6 gene), m.11778G>A (MTND4 gene), MELAS: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes: m.3243A>G (MTTL gene), m.13513G>A (MTND5 gene), MERF: myoclonus, epilepsy and red ragged fibers: m.8344A>G (MTTK gene), MILS: maternally inherited Leigh syndrome: 90% mutation in MT-ATP6 gene, MNGIE: mitochondrial neurogastrointestinal encephalopathy: mutations in TYMP gene, NARP: neuropathy, ataxia and retinitis pigmentosa: 70% mutation in MT-ATP6 gene [20,44,45,46,47,48,49,50,51]. The figure was prepared using the BioRender platform (under license to DPB, created in BioRender. Bogdanos, D. (2025) https://BioRender.com/hazngl0).