Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency

Massimo Zeviani, David H. Van Dyke, Serenella Servidei, Steven C. Bauserman, Eduardo Bonilla, Edgar T. Beaumont, Joan Sharda, Karen Vander-Laan, Salvatore Dimauro

Research output: Contribution to journalArticle

59 Citations (Scopus)

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 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 81/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 41/2 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.

Original languageEnglish
Pages (from-to)1198-1202
Number of pages5
JournalArchives of Neurology
Volume43
Issue number11
DOIs
Publication statusPublished - 1986

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Cytochrome-c Oxidase Deficiency
Muscular Diseases
Electron Transport Complex IV
Myocardium
Macroglossia
Muscle Mitochondrion
Biopsy
Consanguinity
Heart Mitochondria
Lactic Acidosis
Neuromuscular Diseases
Lethargy
Cyanosis
Muscle Hypotonia
Cardiomegaly
Cytochromes
Heart Arrest
Glycogen
Respiratory Insufficiency
Isoenzymes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Zeviani, M., Van Dyke, D. H., Servidei, S., Bauserman, S. C., Bonilla, E., Beaumont, E. T., ... Dimauro, S. (1986). Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency. Archives of Neurology, 43(11), 1198-1202. https://doi.org/10.1001/archneur.1986.00520110084025

Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency. / Zeviani, Massimo; Van Dyke, David H.; Servidei, Serenella; Bauserman, Steven C.; Bonilla, Eduardo; Beaumont, Edgar T.; Sharda, Joan; Vander-Laan, Karen; Dimauro, Salvatore.

In: Archives of Neurology, Vol. 43, No. 11, 1986, p. 1198-1202.

Research output: Contribution to journalArticle

Zeviani, M, Van Dyke, DH, Servidei, S, Bauserman, SC, Bonilla, E, Beaumont, ET, Sharda, J, Vander-Laan, K & Dimauro, S 1986, 'Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency', Archives of Neurology, vol. 43, no. 11, pp. 1198-1202. https://doi.org/10.1001/archneur.1986.00520110084025
Zeviani M, Van Dyke DH, Servidei S, Bauserman SC, Bonilla E, Beaumont ET et al. Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency. Archives of Neurology. 1986;43(11):1198-1202. https://doi.org/10.1001/archneur.1986.00520110084025
Zeviani, Massimo ; Van Dyke, David H. ; Servidei, Serenella ; Bauserman, Steven C. ; Bonilla, Eduardo ; Beaumont, Edgar T. ; Sharda, Joan ; Vander-Laan, Karen ; Dimauro, Salvatore. / Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency. In: Archives of Neurology. 1986 ; Vol. 43, No. 11. pp. 1198-1202.
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