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

Corrado Angelini, Nereo Bresolin, Giovanna Pegolo, Luciano Bet, Piero Rinaldo, Carlo Trevisan, Ludovica Vergani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1048-1052
Number of pages5
JournalNeurology
Volume36
Issue number8
Publication statusPublished - 1986

ASJC Scopus subject areas

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

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