Literature DB >> 17410322

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.

Emma L Blakely, Helen Swalwell, Richard K H Petty, Robert McFarland, Douglass M Turnbull, Robert W Taylor.   

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Year:  2007        PMID： 17410322     DOI： 10.1007/s00415-006-0490-7

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  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.

Authors:  M Houshmand; C Lindberg; A R Moslemi; A Oldfors; E Holme
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

2.  The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.

Authors:  Walter Rossmanith; Thomas Raffelsberger; Julia Roka; Barbara Kornek; Martha Feucht; Reginald E Bittner
Journal:  Ann Neurol       Date:  2003-12       Impact factor: 10.422

Review 3.  Mitochondrial respiratory-chain diseases.

Authors:  Salvatore DiMauro; Eric A Schon
Journal:  N Engl J Med       Date:  2003-06-26       Impact factor: 91.245

Review 4.  Mitochondrial DNA mutations in human disease.

Authors:  Robert W Taylor; Doug M Turnbull
Journal:  Nat Rev Genet       Date:  2005-05       Impact factor: 53.242

5.  Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Authors:  F M Santorelli; S C Mak; M El-Schahawi; C Casali; S Shanske; T Z Baram; R E Madrid; S DiMauro
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

6.  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

7.  A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

Authors:  G Silvestri; C T Moraes; S Shanske; S J Oh; S DiMauro
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
  7 in total
  2 in total

1.  Transmitochondrial mice as models for primary prevention of diseases caused by mutation in the tRNA(Lys) gene.

Authors:  Akinori Shimizu; Takayuki Mito; Chisato Hayashi; Emi Ogasawara; Ryusuke Koba; Issei Negishi; Keizo Takenaga; Kazuto Nakada; Jun-Ichi Hayashi
Journal:  Proc Natl Acad Sci U S A       Date:  2014-02-07       Impact factor: 11.205

2.  De novo mtDNA point mutations are common and have a low recurrence risk.

Authors:  Suzanne C E H Sallevelt; Christine E M de Die-Smulders; Alexandra T M Hendrickx; Debby M E I Hellebrekers; Irenaeus F M de Coo; Charlotte L Alston; Charlotte Knowles; Robert W Taylor; Robert McFarland; Hubert J M Smeets
Journal:  J Med Genet       Date:  2016-07-22       Impact factor: 6.318
  2 in total

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