Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Author: Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene 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; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry
Tübinger Autor(en):
Laugwitz, Lucia
Haack, Tobias
Published in: American Journal of Human Genetics (2022), Bd. 109, H. 9, S. 1692-1712
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2022.07.007
ISSN: 0002-9297
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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