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- 2014
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
- Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
- 2009
- Abdominal pain and vomiting as first sign of mitochondrial disease
- Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA