Severe X-linked mitochondrial encephalomyopathy

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.

Also known as: combined oxidative phosphorylation deficiency 6, X-linked recessive, combined oxidative phosphorylation deficiency type 6, mitochondrial encephalomyopathy due to COXPD6, mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6, COXPD6, combined oxidative phosphorylation deficiency 6, encephalomyopathy, mitochondrial, X-linked

13 clinical trials for this condition and its sub-types, 0 tagged with Severe X-linked mitochondrial encephalomyopathy itself.