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Treatment for patients with mitochondrial myopathies is best performed by a neurologist and a clinical geneticist or specialist that has experience diagnosing, treating, and managing patients with mitochondrial myopathies

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Q: Who comprises the treatment team for a patient with mitochondrial myopathies?
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How are mitochondrial myopathies diagnosed?

The diagnosis of mitochondrial myopathies is initially clinical, which means that it is based on the observable clinical manifestations that the patient shows versus results obtained from genetic analysis or laboratory tests


How was the identification of nDNA mutations that cause mitochondrial myopathies first made?

first made when a nuclear gene involved in mtDNA replication was found to be defective in a disorder involving a patient with a mitochondrial myopathy


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