Mitochondrial respiratory-chain diseases
S DiMauro, EA Schon - New England Journal of Medicine, 2003 - Mass Medical Soc
S DiMauro, EA Schon
New England Journal of Medicine, 2003•Mass Medical SocThe 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.
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.
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.
The New England Journal Of Medicine