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  • Küçük Resim Yok
    Öğe
    Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes
    (Elsevier, 2024) Altuntas, Cansu; Uzunhan, Tugce Aksu; Erturk, Biray; Petmezci, Mey Talip; Cakar, Nafiye Emel; Noyan, Bilge; Lhsan Dokcu, Ali
    [Abstract Not Available]
  • Küçük Resim Yok
    Öğe
    A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy
    (Elsevier, 2023) Altuntas, Cansu; Uzunhan, Tugce Aksu; Erturk, Biray; Petmezci, Mey Talip; Cakar, Nafiye Emel; Noyan, Bilge; Dokucu, Ali Ihsan
    Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a well-known mitochondrial depletion syndrome. Since Van Goethem et al. described MNGIE syndrome with pathogenic POLG1 mutations in 2003, POLG1 gene became a target for MNGIE patients. Cases with POLG1 mutations strikingly differ from classic MNGIE patients due to a lack of leukoencephalopathy. Here we present a female patient with very early onset disease and leukoencephalopathy compatible with classic MNGIE disease who turned out to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b.