Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency, with cardiomyopathy.
Incidence
Very rare (3 girls), fatal
Clinical Characteristics
Severe hypotonia. It is a bad disease. Pts have macroglosia, disturbed liver function, cardiomyopathy.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Complex IV (cytochrome c oxidase) deficiency: EB-F, EB-muscle, liver, brain, kidney, heart