Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
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Published:2022-09
Issue:9
Volume:109
Page:1692-1712
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Kaiyrzhanov RauanORCID, Mohammed Sami E.M., Maroofian Reza, Husain Ralf A., Catania Alessia, Torraco Alessandra, Alahmad Ahmad, Dutra-Clarke Marina, Grønborg Sabine, Sudarsanam Annapurna, Vogt Julie, Arrigoni Filippo, Baptista Julia, Haider Shahzad, Feichtinger René G., Bernardi Paolo, Zulian Alessandra, Gusic Mirjana, Efthymiou Stephanie, Bai Renkui, Bibi Farah, Horga Alejandro, Martinez-Agosto Julian A., Lam Amanda, Manole Andreea, Rodriguez Diego-Perez, Durigon Romina, Pyle Angela, Albash Buthaina, Dionisi-Vici Carlo, Murphy David, Martinelli Diego, Bugiardini Enrico, Allis Katrina, Lamperti Costanza, Reipert Siegfried, Risom Lotte, Laugwitz Lucia, Di Nottia Michela, McFarland Robert, Vilarinho Laura, Hanna Michael, Prokisch Holger, Mayr Johannes A., Bertini Enrico Silvio, Ghezzi Daniele, Østergaard Elsebet, Wortmann Saskia B., Carrozzo Rosalba, Haack Tobias B., Taylor Robert W., Spinazzola Antonella, Nowikovsky Karin, Houlden Henry
Subject
Genetics (clinical),Genetics
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