Article
The expanding spectrum of nuclear gene mutations in mitochondrial disorders.
Seminars in cell & developmental biology - 1 Dec 2001
Zeviani M
Abstract excerpt
Our understanding of the molecular basis of mitochondrial disorders has come primarily from the discovery of an expanding number of mutations of mtDNA. However, a variety of recent observations indicate that many syndromes are due to abnormalities in nuclear genes related to oxidative-phosphorylation (OXPHOS). Nuclear genes encode hundreds of proteins involved in mitochondrial OXPHOS. Nevertheless, the...
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