A de novo nonsense mutation (G5920A) in the COX I gene of muscle mtDNA can cause COX deficiency and recurrent myoglobinuria, highlighting the need to consider mtDNA mutations in such patients.
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May warrant mtDNA testing in recurrent myoglobinuria with COX deficiency; leaves open generalizability pending larger studies.
Karadimas et al. (2000) studied this question.
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