Article
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Human genetics - 1 Dec 1997
Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A
Abstract excerpt
Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous. In an attempt to determine the respective roles of mtDNA and nuclear DNA mutations in COX deficiency, we sequenced the three...
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