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Severe X-linked mitochondrial encephalomyopathy

Orpha number ORPHA238329
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 Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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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