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2020 | 3 |
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The genetic basis of isolated mitochondrial complex II deficiency.
Mol Genet Metab. 2020 Sep-Oct;131(1-2):53-65. doi: 10.1016/j.ymgme.2020.09.009. Epub 2020 Oct 3.
Mol Genet Metab. 2020.
PMID: 33162331
Free PMC article.
Review.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW.
Alston CL, et al.
Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19.
Am J Hum Genet. 2020.
PMID: 31866046
Free PMC article.
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The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant.
Alston CL, Blakely EL, McFarland R, Taylor RW.
Alston CL, et al.
J Neurol Sci. 2020 Oct 15;417:116950. doi: 10.1016/j.jns.2020.116950. Epub 2020 May 29.
J Neurol Sci. 2020.
PMID: 32522371
Free PMC article.
No abstract available.
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