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Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.
Arch Neurol. 1986 Nov; 43(11):1198-202.AN

Abstract

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.

Authors

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Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

3022695

Citation

Zeviani, M, et al. "Myopathy and Fatal Cardiopathy Due to Cytochrome C Oxidase Deficiency." Archives of Neurology, vol. 43, no. 11, 1986, pp. 1198-202.
Zeviani M, Van Dyke DH, Servidei S, et al. Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch Neurol. 1986;43(11):1198-202.
Zeviani, M., Van Dyke, D. H., Servidei, S., Bauserman, S. C., Bonilla, E., Beaumont, E. T., Sharda, J., VanderLaan, K., & DiMauro, S. (1986). Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Archives of Neurology, 43(11), 1198-202.
Zeviani M, et al. Myopathy and Fatal Cardiopathy Due to Cytochrome C Oxidase Deficiency. Arch Neurol. 1986;43(11):1198-202. PubMed PMID: 3022695.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. AU - Zeviani,M, AU - Van Dyke,D H, AU - Servidei,S, AU - Bauserman,S C, AU - Bonilla,E, AU - Beaumont,E T, AU - Sharda,J, AU - VanderLaan,K, AU - DiMauro,S, PY - 1986/11/1/pubmed PY - 1986/11/1/medline PY - 1986/11/1/entrez SP - 1198 EP - 202 JF - Archives of neurology JO - Arch. Neurol. VL - 43 IS - 11 N2 - 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. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/3022695/Myopathy_and_fatal_cardiopathy_due_to_cytochrome_c_oxidase_deficiency_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/vol/43/pg/1198 DB - PRIME DP - Unbound Medicine ER -