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GENATLAS PHENOTYPE

last update : 01/10/2008

Symbol	MTMRP
Location	mt
Name	mitochondrial myopathy with exercise intolerance and retinal dystrophy
Corresponding gene	MT-TF
Main clinical features	mitochondrial myopathy with exercise intolerance and an asymptomatic retinopathy muscle investigations showed occasional ragged red fibers, 30p100 cytochrome c oxidase (COX)-negative fibers, and reduced activities of complex I+IV in the respiratory chain
Genetic determination
Function/system disorder	neuromuscular
Type	disease

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