Severe X-linked mitochondrial encephalomyopathy
Severe X-linked mitochondrial encephalomyopathy
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.
Also known as combined oxidative phosphorylation deficiency 6, X-linked recessive, combined oxidative phosphorylation deficiency type 6, mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6, mitochondrial encephalomyopathy due to COXPD6 — per MONDO