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

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

EUROPEAN JOURNAL OF PEDIATRICS, cilt.169, sa.11, ss.1375-1378, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 169 Sayı: 11
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1007/s00431-010-1237-0
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1375-1378
  • Anahtar Kelimeler: Mitochondrial neurogastrointestinal encephalomyopathy, Gastrointestinal dysmotility, New mutation, GENE
  • Gazi Üniversitesi Adresli: Evet

Özet

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.