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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: taylor rw. 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.
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: taylor rw. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
The neurology of mitochondrial DNA disease.
McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: taylor rw. Lancet Neurol. 2002 Oct;1(6):343-51. doi: 10.1016/s1474-4422(02)00159-x. Lancet Neurol. 2002. PMID: 12849395 Review.
The diagnosis of mitochondrial muscle disease.
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. Taylor RW, et al. Neuromuscul Disord. 2004 Apr;14(4):237-45. doi: 10.1016/j.nmd.2003.12.004. Neuromuscul Disord. 2004. PMID: 15019701 Review.
963 results