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

Baris, Zeren; Eminoglu, Tuba; DALGIÇ, BUKET; TÜMER, LEYLA; Hasanoglu, Alev

doi:10.1007/s00431-010-1237-0

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, Scopus)

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.