Home Page
References OMIM Gene GeneReviews HGMD HGNC
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