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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 169 Issue: 11
  • Publication Date: 2010
  • Doi Number: 10.1007/s00431-010-1237-0
  • Journal Name: EUROPEAN JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1375-1378
  • Keywords: Mitochondrial neurogastrointestinal encephalomyopathy, Gastrointestinal dysmotility, New mutation, GENE
  • Eskisehir Osmangazi University Affiliated: No

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.