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Journal Abstract Search

121 related items for PubMed ID: 16769874

  • 1. Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.
    Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor RW.
    Arch Neurol; 2006 Jun; 63(6):902-5. PubMed ID: 16769874
    [Abstract] [Full Text] [Related]

  • 2. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
    Houshmand M, Lindberg C, Moslemi AR, Oldfors A, Holme E.
    Hum Mutat; 1999 Jun; 13(3):203-9. PubMed ID: 10090475
    [Abstract] [Full Text] [Related]

  • 3. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
    Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W.
    Neuromuscul Disord; 2006 Dec; 16(12):874-7. PubMed ID: 17056256
    [Abstract] [Full Text] [Related]

  • 4. A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.
    Maeso E, Rueda A, Jiménez S, Del Hoyo P, Martín R, Cabello A, Mendoza LM, Arenas J, Campos Y.
    Neuromuscul Disord; 2007 May; 17(5):415-8. PubMed ID: 17363246
    [Abstract] [Full Text] [Related]

  • 5. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
    Darin N, Kollberg G, Moslemi AR, Tulinius M, Holme E, Grönlund MA, Andersson S, Oldfors A.
    Neuromuscul Disord; 2006 Aug; 16(8):504-6. PubMed ID: 16806928
    [Abstract] [Full Text] [Related]

  • 6. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
    Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S.
    J Neurol Sci; 2005 Jan 15; 228(1):93-7. PubMed ID: 15607216
    [Abstract] [Full Text] [Related]

  • 7. Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.
    Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S.
    Arch Neurol; 2007 Sep 15; 64(9):1339-43. PubMed ID: 17846276
    [Abstract] [Full Text] [Related]

  • 8. Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
    Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S.
    J Child Neurol; 2007 Jul 15; 22(7):858-62. PubMed ID: 17715279
    [Abstract] [Full Text] [Related]

  • 9. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.
    Chinnery PF, Johnson MA, Taylor RW, Lightowlers RN, Turnbull DM.
    Ann Neurol; 1997 Mar 15; 41(3):408-10. PubMed ID: 9066365
    [Abstract] [Full Text] [Related]

  • 10. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
    Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG.
    Neuromuscul Disord; 2005 May 15; 15(5):364-71. PubMed ID: 15833431
    [Abstract] [Full Text] [Related]

  • 11. Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.
    Müller T, Deschauer M, Neudecker S, Zierz S.
    Acta Neuropathol; 2005 Oct 15; 110(4):426-30. PubMed ID: 16133542
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH.
    Arch Neurol; 2005 Dec 15; 62(12):1920-3. PubMed ID: 16344351
    [Abstract] [Full Text] [Related]

  • 13. Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.
    Gambello MJ, Bai RK, Chen TJ, Dimachkie M, Wong LJ.
    Muscle Nerve; 2006 Oct 15; 34(4):437-43. PubMed ID: 16810691
    [Abstract] [Full Text] [Related]

  • 14. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
    Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C.
    Muscle Nerve; 2003 Oct 15; 28(4):508-11. PubMed ID: 14506725
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
    Coulbault L, Herlicoviez D, Chapon F, Read MH, Penniello MJ, Reynier P, Fayet G, Lombès A, Jauzac P, Allouche S.
    Biochem Biophys Res Commun; 2005 Apr 15; 329(3):1152-4. PubMed ID: 15752774
    [Abstract] [Full Text] [Related]

  • 16. Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA.
    Thajeb P, Ma YS, Tzen CY, Chuang CK, Wu TY, Chen SC, Wei YH.
    Clin Neurol Neurosurg; 2006 Jun 15; 108(4):407-10. PubMed ID: 16644408
    [Abstract] [Full Text] [Related]

  • 17. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
    De Paepe B, Smet J, Lammens M, Seneca S, Martin JJ, De Bleecker J, De Meirleir L, Lissens W, Van Coster R.
    J Clin Pathol; 2009 Feb 15; 62(2):172-6. PubMed ID: 19181635
    [Abstract] [Full Text] [Related]

  • 18. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.
    Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZM, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA.
    Neuromuscul Disord; 2004 Jul 15; 14(7):417-20. PubMed ID: 15210164
    [Abstract] [Full Text] [Related]

  • 19. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
    Anitori R, Manning K, Quan F, Weleber RG, Buist NR, Shoubridge EA, Kennaway NG.
    Mol Genet Metab; 2005 Feb 15; 84(2):176-88. PubMed ID: 15670724
    [Abstract] [Full Text] [Related]

  • 20. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
    Houshmand M, Gardner A, Hällström T, Müntzing K, Oldfors A, Holme E.
    Neuromuscul Disord; 2004 Mar 15; 14(3):195-201. PubMed ID: 15036329
    [Abstract] [Full Text] [Related]

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