Abstract
Pearson syndrome. Clinical spectrum of mitochondrial disorders is broad, so consensus diagnostic criteria for mitochondrial disorders have been proposed for children and adults. Sequence map of human mitochondrial genome with its normal and patho genic variants is publicly available. In this review, we will discuss genetic features of mitochondrial myopathies as well as their key findings. Representative syndromes will be described in detail and the less common entities will be summarized in Table 1.
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