Sareh Hosseinpour, Ehsan Razmara, Morteza Heidari, Zahra Rezaei, Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Reyhaneh Kameli, Ali Hosseini Bereshneh, Hassan Vahidnezhad, Reza Azizimalamiri, Zahra Zamani, Neda Pak, Maryam Rasulinezhad, Bahram Mohammadi, Homa Ghabeli, Mohammad Ghafouri, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Sasan Saket, Bahareh Rabbani, Nejat Mahdieh, Ali Ahani, Masoud Garshasbi, Ali Reza Tavasoli
OBJECTIVE: Mitochondrial leukodystrophies (MLs) are mainly caused by impairments of the mitochondrial respiratory chains. This study reports the mutation and phenotypic spectrum of a cohort of 41 pediatric patients from 39 distinct families with MLs among 320 patients with a molecular diagnosis of leukodystrophies. METHODS: This study summarizes the clinical, imaging, and molecular data of these patients for five years. RESULTS: The three most common symptoms were neurologic regression (58...
December 21, 2023: Brain & Development