Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.
Authorsvon Kleist-Retzow JC, Vial E, Chantrel-Groussard K, Rötig A, Munnich A, Rustin P, Taanman JW
JournalBiochim Biophys Acta
PubMed ID10524227
Mitochondrial respiratory chain defects involving cytochrome c oxidase (COX) are found in a clinically heterogeneous group of diseases, yet the molecular basis of these disorders have been determined in only a limited number of cases. Here, we report the clinical, biochemical and molecular findings in 17 patients who all had ... More