Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
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Kaiyrzhanov R, et al.
Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007.
Am J Hum Genet. 2022.
PMID: 36055214
Free PMC article.