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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Abdominal pain and vomiting as first sign of mitochondrial disease