Literature DB >> 8739944

Clinical variability associated with the mutation at nucleotide position 8344 of the mitochondrial DNA.

Y Campos1, M A Martín, J Vaamonde, A Cabello, J Esteban, J Arenas.   

Abstract

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Year:  1996        PMID： 8739944     DOI： 10.1007/bf01799408

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


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  7 in total

1.  Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

Authors:  M Zeviani; P Amati; N Bresolin; C Antozzi; G Piccolo; A Toscano; S DiDonato
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

2.  Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

Authors:  J M Shoffner; M T Lott; A M Lezza; P Seibel; S W Ballinger; D C Wallace
Journal:  Cell       Date:  1990-06-15       Impact factor: 41.582

3.  Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Authors:  G Silvestri; E Ciafaloni; F M Santorelli; S Shanske; S Servidei; W D Graf; M Sumi; S DiMauro
Journal:  Neurology       Date:  1993-06       Impact factor: 9.910

4.  The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

Authors:  S R Hammans; M G Sweeney; M Brockington; G G Lennox; N F Lawton; C R Kennedy; J A Morgan-Hughes; A E Harding
Journal:  Brain       Date:  1993-06       Impact factor: 13.501

5.  Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF)

Authors:  Y Campos; J Esteban; A Cabello; J Arenas
Journal:  Muscle Nerve       Date:  1994-10       Impact factor: 3.217

6.  Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

Authors:  Y Campos; T Garcia-Silva; C R Barrionuevo; A Cabello; R Muley; J Arenas
Journal:  Pediatr Neurol       Date:  1995-07       Impact factor: 3.372

7.  Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Authors:  N G Larsson; M H Tulinius; E Holme; A Oldfors; O Andersen; J Wahlström; J Aasly
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
  7 in total

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