x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

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.

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.

ORPHA:254864

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.