Abstract
Mitochondrial myopathies here imply the disorders of the respiratory chain that exclusively or predominantly affect the skeletal muscle (DiMauro and Gurgel-Gianneti 2006). They frequently present with multisystem dysfunction and have a broad variety of phenotypes and genetic etiologies. They can be classified genetically into two major groups: those due to mutations in mitochondrial DNA (mtDNA) and those due to mutations in nuclear DNA (nDNA). The prevalence of mitochondrial disorders as a whole is approximately 1 in 10,000 (Schaefer et al. 2008), although the carrier frequency of mtDNA mutations is about 1 in 200 (Elliott et al. 2008).
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Chen, H. (2015). Mitochondrial Myopathies. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_280-1
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DOI: https://doi.org/10.1007/978-1-4614-6430-3_280-1
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