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- Large-scale mitochondrial DNA deletions
- Neurogenic weakness, Ataxia, and Retinitis Pigmentosa (NARP)
- Multiple mitochondrial DNA deletions
- Mitochondrial Neuro-gastro-intestinal encephalopathy (MNGIE)
- Myoclonic Epilepsy and Ragged Red Fibres (MERRF 8344 A>G)
- Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) 3243 A>G mutation
- Leigh syndrome
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