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- Mitochondrial neurogastrointestinal encephalomyopathy
- Creatine kinase
- Left ventricular hypertrophy
- Cardiomyopathy (WHO/ISFC 1995 classification)
- POLG-related disorders
- Barth syndrome
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
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