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August 1, 1986

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

August 1986 issue
36 (8) 1048

Abstract

The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

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Published In

Neurology®
Volume 36Number 8August 1986
Pages: 1048
PubMed: 3016603

Publication History

Published online: August 1, 1986
Published in print: August 1986

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Authors

Affiliations & Disclosures

Corrado Angelini
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.
Nereo Bresolin
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.
Giovanna Pegolo
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.
Luciano Bet
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.
Piero Rinaldo
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.
Carlo Trevisan
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.
Ludovica Vergani
Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.

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  9. Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin‐responsive, multiple acyl‐CoA dehydrogenase deficiency patient, ELECTROPHORESIS, 27, 5-6, (1182-1198), (2006).https://doi.org/10.1002/elps.200500687
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  10. Cytochrome c oxidase deficiency in leigh syndrome , Annals of Neurology, 22, 4, (498-506), (2004).https://doi.org/10.1002/ana.410220409
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