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March 10, 2006American Journal of Medical Genetics Part A

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

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Authors

ÉMÉva MoravaRRRichard J. RodenburgFHFrans A. Hol

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Morava et al. (2006) studied this question.

synapsesocial.com/papers/6aaf3de3dc4bef2ee7d0622ahttps://doi.org/10.1002/ajmg.a.31194
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Biochemical-Clinical Correlation in Patients With Different Loads of the Mitochondrial DNA T8993G Mutation2002 · 77 citations
  2. 2Mitochondrial ATP Synthasome2004 · 205 citations
  3. 3Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.1994 · 193 citations