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Up to: Mitochondrial respiratory chain complex deficiency

Mitochondrial complex IV deficiency, nuclear-type

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

1 trial tagged with this condition →

COX deficiency, benign infantile mitochondrial myopathy 0 trials
Mitochondrial complex 4 deficiency, nuclear type 25 0 trials
Mitochondrial complex IV deficiency, nuclear type 1 0 trials
Mitochondrial complex IV deficiency, nuclear type 10 0 trials
Mitochondrial complex IV deficiency, nuclear type 11 0 trials
Mitochondrial complex IV deficiency, nuclear type 12 0 trials
Mitochondrial complex IV deficiency, nuclear type 14 0 trials
Mitochondrial complex IV deficiency, nuclear type 15 0 trials
Mitochondrial complex IV deficiency, nuclear type 16 0 trials
Mitochondrial complex IV deficiency, nuclear type 17 0 trials
Mitochondrial complex IV deficiency, nuclear type 18 0 trials
Mitochondrial complex IV deficiency, nuclear type 19 0 trials
Mitochondrial complex IV deficiency, nuclear type 20 0 trials
Mitochondrial complex IV deficiency, nuclear type 21 0 trials
Mitochondrial complex IV deficiency, nuclear type 22 0 trials
Mitochondrial complex IV deficiency, nuclear type 23 0 trials
Mitochondrial complex IV deficiency, nuclear type 24 0 trials
Mitochondrial complex IV deficiency, nuclear type 3 0 trials
Mitochondrial complex IV deficiency, nuclear type 4 0 trials
Mitochondrial complex IV deficiency, nuclear type 7 0 trials
Mitochondrial complex IV deficiency, nuclear type 8 0 trials
Pancreatic insufficiency-anemia-hyperostosis syndrome 0 trials