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GENATLAS PHENOTYPE

last update : 02-02-2009

Symbol	MNGIE2
Location	15q26.1
Name	mitochondrial neurogastrointestinal encephalopathy
Corresponding gene	POLG
Other symbol(s)	MTDPS4B
Main clinical features	mitochondrial neurogastrointestinal encephalopathy without leukoencephalopathy multisystem disorder clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction)
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	digestive tract/gastrointestinal
Type	disease

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