Literature DB >> 17965958

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.

Bart W Smits, Frans A Hol, Lambert P van den Heuvel, Gea Drost, Richard J T Rodenburg, Henk J Ter Laak, Baziel G M van Engelen.   

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Year:  2007        PMID： 17965958     DOI： 10.1007/s00415-007-0608-6

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


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  4 in total

1.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

Authors:  C T Moraes; S DiMauro; M Zeviani; A Lombes; S Shanske; A F Miranda; H Nakase; E Bonilla; L C Werneck; S Servidei
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

2.  A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

Authors:  Robert W Taylor; Andrew M Schaefer; Robert McFarland; Paul Maddison; Douglass M Turnbull
Journal:  Neuromuscul Disord       Date:  2002-10       Impact factor: 4.296

3.  Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Authors:  Antoon J M Janssen; Frans J M Trijbels; Rob C A Sengers; Liesbeth T M Wintjes; Wim Ruitenbeek; Jan A M Smeitink; Eva Morava; Baziel G M van Engelen; Lambert P van den Heuvel; Richard J T Rodenburg
Journal:  Clin Chem       Date:  2006-03-16       Impact factor: 8.327

4.  MITOMAP: a human mitochondrial genome database--2004 update.

Authors:  Marty C Brandon; Marie T Lott; Kevin Cuong Nguyen; Syawal Spolim; Shamkant B Navathe; Pierre Baldi; Douglas C Wallace
Journal:  Nucleic Acids Res       Date:  2005-01-01       Impact factor: 16.971
  4 in total
  3 in total

1.  A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Authors:  Andres Berardo; Jorida Coku; Bulent Kurt; Salvatore DiMauro; Michio Hirano
Journal:  Neuromuscul Disord       Date:  2010-02-10       Impact factor: 4.296

2.  Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.

Authors:  Valentina Emmanuele; Evangelia Sotiriou; Maryam Shirazi; Kurenai Tanji; Ronald G Haller; Katja Heinicke; Peter E Bosch; Michio Hirano; Salvatore DiMauro
Journal:  J Neurol Sci       Date:  2011-02-15       Impact factor: 3.181

3.  Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Authors:  Alejandro Horga; Robert D S Pitceathly; Julian C Blake; Catherine E Woodward; Pedro Zapater; Carl Fratter; Ese E Mudanohwo; Gordon T Plant; Henry Houlden; Mary G Sweeney; Michael G Hanna; Mary M Reilly
Journal:  Brain       Date:  2014-10-03       Impact factor: 13.501
  3 in total

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