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GENATLAS PHENOTYPE

last update : 29-08-2012

Symbol	MTMPEI
Location	mt
Name	mitochondrial myopathy, with progressive exercice intolerance
Corresponding gene	MT-CYB , MT-TN
Main clinical features	exercise intolerance with muscle weakness and myopathy on electromyography and hyperlactic acidemia, and with low activity of respiratory chain complex III in muscle in any cases associated to progressive external ophthalmoplegia
Genetic determination	mitochondrial
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	. cytochrome b (G290D, 15615 nt) . MT-TN (m.5669G>A)

Remark(s)