Mitochondrial Respiratory-Chain Diseases
New England Journal of MedicinePublished 25 June 2003
Salvatore DiMauro, Eric A. Schon
Citations1,646
SJR quartileQ1
SJR score19.08
SNIP13.47
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TL;DR
The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP, and mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause diseases known as mitochondrial encephalomyopathies.
Abstract
The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause diseases known as mitochondrial encephalomyopathies. Because the rules of inheritance of mitochondrial and nuclear DNA differ considerably, these brain–muscle syndromes often have unpredictable clinical and genetic features.
Keywords
Biochemistry, Genetics and Molecular Biology
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