Abstract
Respiratory chain deficiencies have long been regarded as neuromuscular diseases. However, oxidative phosphorylation (i.e., ATP synthesis by the respiratory chain) is not restricted to the neuromuscular system but proceeds in all cells that contain mitochondria (Fig. 13.1). Most non-neuromuscular organs and tissues are, therefore, also dependent upon mitochondrial energy supply. Therefore, due to the twofold genetic origin of respiratory enzymes [nuclear DNA and mitochondrial (mtDNA)] a respiratory chain deficiency can theoretically give rise to any symptom in any organ or tissue at any age and with any mode of inheritance.
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Munnich, A. (2000). Defects of the Respiratory Chain. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_13
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DOI: https://doi.org/10.1007/978-3-662-04285-4_13
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