Phenotypic continuum of NFU1‐related disorders

Phenotypic continuum of NFU1‐related disorders

Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐ra...

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Main Authors: Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51679

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