Article
A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.
Clinical neurology and neurosurgery - 1 Jun 2023
Altuntaş Cansu, Uzunhan Tugce Aksu, Ertürk Biray, Petmezci Mey Talip, Çakar Nafiye Emel, Noyan Bilge, Dokucu Ali İhsan, Önal Hasan
Abstract excerpt
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...
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