Article
Phenotypic continuum of NFU1-related disorders.
Annals of clinical and translational neurology - 1 Dec 2022
Kaiyrzhanov Rauan, Zaki Maha S, Lau Tracy, Sen Sambuddha, Azizimalamiri Reza, Zamani Mina, Sayin Gözde Yeşil, Hilander Taru, Efthymiou Stephanie, Chelban Viorica, Brown Ruth, Thompson Kyle, Scarano Maria Irene, Ganesh Jaya, Koneev Kairgali, Gülaçar Ismail Musab, Person Richard, Sadykova Dinara, Maidyrov Yerdan, Seifi Tahereh, Zadagali Aizhan, Bernard Geneviève, Allis Katrina, Elloumi Houda Zghal, Lindy Amanda, Taghiabadi Ehsan, Verma Sumit, Logan Rachel, Kirmse Brian, Bai Renkui, Khalaf Shaimaa M, Abdel-Hamid Mohamed S, Sedaghat Alireza, Shariati Gholamreza, Issa Mahmoud, Zeighami Jawaher, Elbendary Hasnaa M, Brown Garry, Taylor Robert W, Galehdari Hamid, Gleeson Joseph J, Carroll Christopher J, Cowan James A, Moreno-De-Luca Andres, Houlden Henry, Maroofian Reza
Abstract excerpt
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-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia...
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