Literature DB >> 14518831

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

C Vives-Bauza1, M Del Toro, A Solano, J Montoya, A L Andreu, M Roig.   

Abstract

The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We report a second patient with the same mutation and phenotype.

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Year:  2003        PMID： 14518831     DOI： 10.1023/a:1025133629685

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.

Authors:  J Gámez; A Playán; A L Andreu; C Bruno; C Navarro; C Cervera; M A Arbós; S Schwartz; J A Enriquez; J Montoya
Journal:  Neurology       Date:  1998-07       Impact factor: 9.910

2.  A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).

Authors:  H Hao; C T Moraes
Journal:  Mol Cell Biol       Date:  1997-12       Impact factor: 4.272

3.  Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.

Authors:  J M van den Ouweland; H H Lemkes; W Ruitenbeek; L A Sandkuijl; M F de Vijlder; P A Struyvenberg; J J van de Kamp; J A Maassen
Journal:  Nat Genet       Date:  1992-08       Impact factor: 38.330
  3 in total
  3 in total

1.  The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Authors:  Dario Ronchi; Monica Sciacco; Andreina Bordoni; Monika Raimondi; Michela Ripolone; Elisa Fassone; Alessio Di Fonzo; Mafalda Rizzuti; Patrizia Ciscato; Alessandra Cosi; Maura Servida; Maurizio Moggio; Stefania Corti; Nereo Bresolin; Giacomo P Comi
Journal:  Eur J Hum Genet       Date:  2011-12-21       Impact factor: 4.246

2.  What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

Authors:  Hannah O'Keefe; Rachel Queen; Phillip Lord; Joanna L Elson
Journal:  Evol Appl       Date:  2019-08-27       Impact factor: 5.183

3.  Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Authors:  Kittichate Visuttijai; Carola Hedberg-Oldfors; Ulrika Lindgren; Sara Nordström; Ólöf Elíasdóttir; Christopher Lindberg; Anders Oldfors
Journal:  Acta Neurol Scand       Date:  2020-09-19       Impact factor: 3.915
  3 in total

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