Article
Genetic features of mitochondrial respiratory chain disorders.
Journal of the American Society of Nephrology : JASN - 1 Dec 2003
Rötig Agnès, Munnich Arnold
Abstract excerpt
Oxidative phosphorylation, i.e., ATP synthesis by the oxygen-consuming respiratory chain (RC), supplies most organs and tissues with a readily usable energy source, being functional before birth. Consequently, RC deficiencies can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, because of the twofold genetic origin of RC components (nuclear DNA and...
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