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The Pathogenic Role of Point Mutations Affecting the Translational Initiation Codon of Mitochondrial Genes

  • Published:2000-07 Issue:3 Volume:70 Page:238-240
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Fernández-Moreno Miguel Angel,Bornstein Belén,Campos Yolanda,Arenas Joaquı́n,Garesse Rafael

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference12 articles.

1. Mitochondria in neuromuscular disorders;DiMauro;Biochim Biophys Acta,1998

2. Mitochondrial encephalomyopathies: Gene mutation;Servidei;Neuromuscul Disord,1999

3. Mitochondrial disorders;Zeviani;Medicine,1998

4. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination;Enriquez;Nat Genet,1995

5. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV;Bruno;Am J Hum Genet,1999
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