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GENATLAS PHENOTYPE

last update : 06/10/2008

Symbol	ECMBA
Location	2q33.3
Name	mitochondrial encephalomyopathy with asymmetrical brain atrophy
Corresponding gene	FASTKD2
Main clinical features	mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle
Genetic determination	autosomal recessive
Function/system disorder	neurology
	neuromuscular
Type	disease

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