Article
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Brain & development - 1 Apr 2024
Hosseinpour Sareh, Razmara Ehsan, Heidari Morteza, Rezaei Zahra, Ashrafi Mahmoud Reza, Dehnavi Ali Zare, Kameli Reyhaneh, Bereshneh Ali Hosseini, Vahidnezhad Hassan, Azizimalamiri Reza, Zamani Zahra, Pak Neda, Rasulinezhad Maryam, Mohammadi Bahram, Ghabeli Homa, Ghafouri Mohammad, Mohammadi Mahmoud, Zamani Gholam Reza, Badv Reza Shervin, Saket Sasan, Rabbani Bahareh, Mahdieh Nejat, Ahani Ali, Garshasbi Masoud, Tavasoli Ali Reza
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.