Literature DB >> 20022607

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Jorida Coku1, Sara Shanske, Mahsa Mehrazin, Kurenai Tanji, Ali Naini, Valentina Emmanuele, Marc Patterson, Michio Hirano, Salvatore DiMauro.   

Abstract

Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance.

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Year:  2009        PMID： 20022607      PMCID： PMC3891822          DOI： 10.1016/j.jns.2009.12.001

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  10 in total

1.  Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria.

Authors:  K Tanji; E Bonilla
Journal:  Methods Cell Biol       Date:  2001       Impact factor: 1.441

2.  Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Authors:  Sara Shanske; Jacklyn Pancrudo; Petra Kaufmann; Kristin Engelstad; Sarah Jhung; Jiesheng Lu; Ali Naini; Salvatore DiMauro; Darryl C De Vivo
Journal:  Am J Med Genet A       Date:  2004-10-01       Impact factor: 2.802

3.  Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.

Authors:  G Zsurka; R Schröder; C Kornblum; J Rudolph; R J Wiesner; C E Elger; W S Kunz
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

4.  A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.

Authors:  K Weber; J N Wilson; L Taylor; E Brierley; M A Johnson; D M Turnbull; L A Bindoff
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

5.  A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

Authors:  K Fu; R Hartlen; T Johns; A Genge; G Karpati; E A Shoubridge
Journal:  Hum Mol Genet       Date:  1996-11       Impact factor: 6.150

6.  Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene.

Authors:  C Vives-Bauza; J Gamez; M Roig; P Briones; C Cervera; A Solano; J Montoya; A L Andreu
Journal:  Ann Med       Date:  2001-10       Impact factor: 4.709

7.  Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Authors:  C M Sue; K Tanji; G Hadjigeorgiou; A L Andreu; I Nishino; S Krishna; C Bruno; M Hirano; S Shanske; E Bonilla; N Fischel-Ghodsian; S DiMauro; R Friedman
Journal:  Neurology       Date:  1999-06-10       Impact factor: 9.910

8.  Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Authors:  Massimiliano Filosto; Paola Tonin; Mauro Scarpelli; Chiara Savio; Francesca Greco; Michelangelo Mancuso; Gaetano Vattemi; Vittorio Govoni; Nicolò Rizzuto; Rossella Tupler; Giuliano Tomelleri
Journal:  Neuromuscul Disord       Date:  2008-03-14       Impact factor: 4.296

9.  Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

Authors:  E Cardaioli; P Da Pozzo; E Malfatti; G N Gallus; A Rubegni; A Malandrini; C Gaudiano; L Guidi; G Serni; G Berti; M T Dotti; A Federico
Journal:  J Neurol Sci       Date:  2008-07-07       Impact factor: 3.181

10.  Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Authors:  Charalampos L Karadimas; Leonardo Salviati; Sabrina Sacconi; Penelope Chronopoulou; Sara Shanske; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro
Journal:  Neuromuscul Disord       Date:  2002-11       Impact factor: 4.296
  10 in total
  1 in total

1.  Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

Authors:  Annie Hiniker; Lee-Jun Wong; Sigurd Berven; Cavatina K Truong; Adekunle M Adesina; Marta Margeta
Journal:  Acta Neuropathol Commun       Date:  2014-09-16       Impact factor: 7.801
  1 in total

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