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Mitochondrial Genetics Encoding Guanine-rich heavy (H) strand of mtDNA Located between nucleotide pairs 5904 & 7444 Mutation: G5920A Nonsense Heteroplasmic: Especially abundant in COX negative muscle fibers Sporadic: Not maternally inherited Also see Maternally inherited myopathies Onset Childhood Exercise intolerance Clinical Myoglobinuria: Recurrent Exercise intolerance: Fatigue Strength between episodes: Normal Lab at rest Serum CK: Normal Serum lactate: Normal EMG: Normal Exercise testing: Low oxygen use by muscle Biochemistry: COX deficiency

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