Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

M. Rimoldi, E. Bottacchi, L. Rossi, F. Cornelio, G. Uziel, S. Di Donato

Research output: Contribution to journalArticle

Abstract

A 4-month-old girl had hypotonia, muscle weakness and cardiomyopathy at birth and died at the age of 8 months from heart failure. Muscle biopsy showed normal muscle fibers, normal mitochondria and type II hypotrophy, in agreement with clinical and neurophysiological signs consistent with a suprasegmental lesion. Cytochrome-C-oxidase was the only respiratory chain enzyme that was profoundly decreased in the patient's muscle, but not in her brain, heart and cultured fibroblasts. We suggest that cytochrome-C-oxidase deficiency in skeletal muscle is not always associated with mitochondrial abnormalities and may not always indicate primary muscle pathology.

Original languageEnglish
Pages (from-to)201-207
Number of pages7
JournalJournal of Neurology
Volume227
Issue number4
DOIs
Publication statusPublished - Sep 1982

Keywords

  • Cytochrome-C-oxidase deficiency
  • Floppy infant
  • Mitochondrial myopathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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