Skip to main content

Advertisement

Log in

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

  • LETTER TO THE EDITORS
  • Published:
Journal of Neurology Aims and scope Submit manuscript

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.

Institutional subscriptions

References

  1. Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nature Rev Genet 6:389–402

    Article  CAS  PubMed  Google Scholar 

  2. DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656–2668

    Article  CAS  PubMed  Google Scholar 

  3. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61:931–937

    Article  CAS  PubMed  Google Scholar 

  4. Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S (1992) A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51:1213–1217

    CAS  PubMed  Google Scholar 

  5. Rossmanith W, Raffelsberger T, Roka J, Kornek B, Feucht M, Bittner RE (2003) The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. Ann Neurol 54:820–823

    Article  CAS  PubMed  Google Scholar 

  6. Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S (1996) Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A). Am J Hum Genet 58:933–939

    CAS  PubMed  Google Scholar 

  7. Houshmand M, Lindberg C, Moslemi AR, Oldfors A, Holme E (1999) A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring. Hum Mutat 13:203–209

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Robert W. Taylor.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Blakely, E.L., Swalwell, H., Petty, R.K.H. et al. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. J Neurol 254, 1283–1285 (2007). https://doi.org/10.1007/s00415-006-0490-7

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-006-0490-7

Keywords

Navigation