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.
MONDO:0000066
mitochondrial respiratory chain complex deficiency
is_a
COX deficiency
related
Cytochrome C Oxidase Deficiency
exact
complex 4 mitochondrial respiratory chain deficiency
related
complex IV deficiency
related
cytochrome-C oxidase deficiency
exact
cytochrome-c oxidase deficiency disease
exact
deficiency of mitochondrial respiratory chain complex4
related
isolated COX deficiency
exact
isolated mitochondrial respiratory chain complex IV deficiency
exact
mitochondrial complex IV deficiency
exact
mitochondrial respiratory complex IV deficiency
exact
SPAPB8E5.10 SPCC338.10c SPBC119.06 SPBC1604.25 SPBC3H7.08c SPCC757.15 SPBC1215.01 SPBC25H2.18 SPCC417.16 SPAC1B3.21 SPCC1442.08c SPAC1B2.04 SPCC1739.09c SPAC1420.04c SPAC19B12.13 SPBC8D2.12c SPCC1442.15c SPAC1486.08 SPBC365.02c