Phenotypic continuum of NFU1 ‐related disorders

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‐all...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9735368/
https://www.ncbi.nlm.nih.gov/pubmed/36256512
http://dx.doi.org/10.1002/acn3.51679

Ejemplares similares

Ejemplares similares