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Definition

An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues.

Acronym

COXPD45

Keywords

Primary mitochondrial disease

 
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