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22. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. Jean J; Christodoulou E; Gai X; Tamrazi B; Vera M; Mitchell WG; Schmidt RJ Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35217561 [TBL] [Abstract][Full Text] [Related]
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25. Case Report and Review of the Literature: A New and a Recurrent Variant in the Kušíková K; Feichtinger RG; Csillag B; Kalev OK; Weis S; Duba HC; Mayr JA; Weis D Front Pediatr; 2021; 9():660076. PubMed ID: 33937156 [TBL] [Abstract][Full Text] [Related]
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27. An analysis of the clinical and imaging features of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Chen H; Hu Q; Raza HK; Chansysouphanthong T; Singh S; Rai P; Cui G; Zhang Z; Ye X; Xu C; Liu Y; Jiang H Somatosens Mot Res; 2020 Mar; 37(1):45-49. PubMed ID: 32000557 [No Abstract] [Full Text] [Related]
28. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. Coughlin CR; Scharer GH; Friederich MW; Yu HC; Geiger EA; Creadon-Swindell G; Collins AE; Vanlander AV; Coster RV; Powell CA; Swanson MA; Minczuk M; Van Hove JL; Shaikh TH J Med Genet; 2015 Aug; 52(8):532-40. PubMed ID: 25787132 [TBL] [Abstract][Full Text] [Related]
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36. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. Alsemari A; Al-Younes B; Goljan E; Jaroudi D; BinHumaid F; Meyer BF; Arold ST; Monies D Hum Genomics; 2017 Nov; 11(1):28. PubMed ID: 29137650 [TBL] [Abstract][Full Text] [Related]
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