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MT-CO1 gene mutation
Clinical significance:
- defects in MT-CO1 are a cause of
a) Leber hereditary optic neuropathy (LHON)
b) acquired idiopathic sideroblastic anemia
c) cytochrome c oxidase deficiency
d) recurrent myoglobinuria mitochondrial
e) mitochondrial sensorineural deafness
f) colorectal cancer (CRC)
Related
cytochrome c oxidase subunit 1; cytochrome c oxidase polypeptide I (MT-CO1 COI COXI MTCO1)
General
gene mutation testing; gene mutation analysis
References
Loinc