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27. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment. Ronchi D; Sciacco M; Bordoni A; Raimondi M; Ripolone M; Fassone E; Di Fonzo A; Rizzuti M; Ciscato P; Cosi A; Servida M; Moggio M; Corti S; Bresolin N; Comi GP Eur J Hum Genet; 2012 Mar; 20(3):357-60. PubMed ID: 22189266 [TBL] [Abstract][Full Text] [Related]
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32. Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Ballhausen D; Guerry F; Hahn D; Schaller A; Nuoffer JM; Bonafé L; Jeannet PY; Jacquemont S J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S219-26. PubMed ID: 20458543 [TBL] [Abstract][Full Text] [Related]
33. Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. Cardaioli E; Malfatti E; Da Pozzo P; Gallus GN; Carluccio MA; Rufa A; Volpi N; Dotti MT; Federico A J Neurol Sci; 2011 Apr; 303(1-2):142-5. PubMed ID: 21257182 [TBL] [Abstract][Full Text] [Related]
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40. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease. Kleinle S; Schneider V; Moosmann P; Brandner S; Krähenbühl S; Liechti-Gallati S Biochem Biophys Res Commun; 1998 Jun; 247(1):112-5. PubMed ID: 9636664 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]