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GENATLAS PHENOTYPE

last update : 11-04-2012

Symbol	MTCO1
Location	mt
Name	mitochondrial motor neuron disease
Corresponding gene	COX1
related resource	MITOP database
Other symbol(s)	COX1
Main clinical features	increased cerebrospinal fluid protein content and in any cases recurrent myoglobinuria with muscular exercise intolerance (nt 5920 G->A) also MELAS-like syndrome, with strokes, seizures, and lactic acidosis
Genetic determination	mitochondrial
Function/system disorder	neurology
Type	disease

Gene product

Name	cytochrome c oxidase subunit 1 (MT-CO1)

Remark(s)

. heteroplasmic m.7023G>A mutation in the Melas-like form (PMID: 19568996))