Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.

TitleMyopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.
Publication TypeJournal Article
Year of Publication1986
AuthorsZeviani, M, Van Dyke, DH, Servidei, S, Bauserman, SC, Bonilla, E, Beaumont, ET, Sharda, J, VanderLaan, K, DiMauro, S
JournalArch Neurol
Date Published1986 Nov
KeywordsCytochrome-c Oxidase Deficiency, Female, Heart Diseases, Humans, Infant, Newborn, Muscular Diseases

A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 4 1/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.

Alternate JournalArch. Neurol.
Citation Key10.1001/archneur.1986.00520110084025
PubMed ID3022695
Grant ListNS-11766 / NS / NINDS NIH HHS / United States