Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Disease definition

A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.


Classification level: Disorder
  • Synonym(s):
    • Benign COX deficiency
    • Infantile reversible cytochrome C oxidase deficiency myopathy
    • Mitochondrial myopathy with reversible COX deficiency
    • Mitochondrial myopathy with reversible complex IV deficiency
    • Reversible infantile cytochrome C oxidase deficiency
    • Reversible infantile respiratory chain deficiency
  • Prevalence: -
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • OMIM: 500009
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.