Skip to main content
Log in

Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA

  • Short Report
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Ciafaloni E, Ricci E, Shanske S et al (1992) MELAS: clinical features, biochemistry and molecular genetics.Ann Neurol 31: 391–398.

    Google Scholar 

  • Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup in mitochondrial encephalomyopathies.Nature 348: 651–653.

    Google Scholar 

  • Holt IJ, Harding AE, Cooper JM et al (1989) Mitochondrial myopathies: clinical and biochemical features in 30 cases with major deletions of muscle mitochondrial DNA.Ann Neurol 26: 699–708.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Campos, Y., Bautista, J., Gutierrez-Rivas, E. et al. Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA. J Inherit Metab Dis 17, 634–635 (1994). https://doi.org/10.1007/BF00711608

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711608

Keywords

Navigation