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Severe X-linked mitochondrial encephalomyopathy

Synonym(s) Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
  • G31.8
MeSH -
MedDRA -


Disease definition

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

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