Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation


Baris Z. , Eminoglu T., DALGIÇ B., TÜMER L., Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS, vol.169, no.11, pp.1375-1378, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 169 Issue: 11
  • Publication Date: 2010
  • Doi Number: 10.1007/s00431-010-1237-0
  • Title of Journal : EUROPEAN JOURNAL OF PEDIATRICS
  • Page Numbers: pp.1375-1378

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy.