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6. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA. Diabetes; 1994 Jun; 43(6):746-51. PubMed ID: 7910800 [Abstract] [Full Text] [Related]
9. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J. Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168 [Abstract] [Full Text] [Related]
11. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. Chomyn A, Enriquez JA, Micol V, Fernandez-Silva P, Attardi G. J Biol Chem; 2000 Jun 23; 275(25):19198-209. PubMed ID: 10858457 [Abstract] [Full Text] [Related]
16. Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA. Rusanen H, Majamaa K, Tolonen U, Remes AM, Myllylä R, Hassinen IE. Neurology; 1995 Jun 23; 45(6):1188-92. PubMed ID: 7783887 [Abstract] [Full Text] [Related]
18. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. Koga Y, Davidson M, Schon EA, King MP. Nucleic Acids Res; 1993 Feb 11; 21(3):657-62. PubMed ID: 7680123 [Abstract] [Full Text] [Related]
19. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Yasukawa T, Suzuki T, Ueda T, Ohta S, Watanabe K. J Biol Chem; 2000 Feb 11; 275(6):4251-7. PubMed ID: 10660592 [Abstract] [Full Text] [Related]
20. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene. Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y. Brain Dev; 2014 Feb 11; 36(2):180-2. PubMed ID: 23582502 [Abstract] [Full Text] [Related] Page: [Next] [New Search]