Article
A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders.
Mitochondrion - 1 Nov 2025
Zioudi Abir, Gouiza Ismail, Galai Said, Hechmi Meriem, Klaa Hedia, Miladi Zouhour, Ben Younes Thouraya, Benrhouma Hanene, Ben Youssef-Turki Ilhem, Omar Souheil, Lenaers Guy, Kefi Rym, Gouider-Khouja Neziha, Kraoua Ichraf
Abstract excerpt
Mitochondrial Neuro-Gastro-Intestinal Encephalopathy (MNGIE) is a rare and fatal mitochondrial disorder caused by biallelic mutations in the TYMP gene. In rare cases, it can be caused by pathogenic variants in the POLG gene, with a clinical presentation similar to that of TYMP-related MNGIE, except for the absence of leukoencephalopathy. Here we report the cases of six Tunisian patients presenting with a...
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