Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease (original) (raw)

Nature Genetics volume 28, pages 218–219 (2001)Cite this article

Abstract

Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle1,2,3,4. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases.

This is a preview of subscription content, access via your institution

Access options

Subscribe to this journal

Receive 12 print issues and online access

$209.00 per year

only $17.42 per issue

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Additional access options:

Figure 1: Expression of caveodin 3 and nNOS, and NO stimulation assay.

Similar content being viewed by others

References

  1. Torbergsen, T. Acta Neurol. Scand. 51, 225–232 (1975).
    Article CAS Google Scholar
  2. Ricker, K., Moxley, R.T. & Rohkamm, R. Arch. Neurol. 46, 405–408 (1989).
    Article CAS Google Scholar
  3. Stephan, D.A. et al. Neurology 44, 1915–1920.
  4. Vorgerd, M. et al. Neurology 52, 1453–1459 (1999).
    Article CAS Google Scholar
  5. Tang, Z. et al. J. Biol. Chem. 271, 2255–2261 (1996).
    Article CAS Google Scholar
  6. Minetti, C. et al. Nature Genet. 18, 365–368 (1998).
    Article CAS Google Scholar
  7. Herrmann, R. et al. Hum. Mol. Genet. 9, 2335–2340 (2000).
    Article CAS Google Scholar
  8. Carbone, I. et al. Neurology 54, 1373–1376 (2000).
    Article CAS Google Scholar
  9. Galbiati, F., Volont, D., Minetti, C., Chu, J.B. & Lisanti, M.P. J. Biol. Chem. 274, 25632–25641 (1999).
    Article CAS Google Scholar
  10. Michel, T. & Feron, O. J. Clin. Invest. 100, 2146–2152 (1997).
    Article CAS Google Scholar
  11. Stamler, J.S. & Meissner, G. Physiol. Rev. 81, 209–237 (2001).
    Article CAS Google Scholar
  12. Hagiwara, Y. et al. Hum. Mol. Genet. 9, 3047–3054 (2000).
    Article CAS Google Scholar
  13. Sunada, Y. et al. T Hum. Mol. Genet. 10, 173–178 (2001).
    Article CAS Google Scholar
  14. Williams, G., Becker, L., Bryant, D., Willis, S. & Giroir, B.P. Am. J. Physiol. 270, R145–R152 (1996).
    CAS PubMed Google Scholar
  15. Tidball, J.G. et al. Am. J. Physiol. 275, C260–C266 (1998).
    Article CAS Google Scholar

Download references

Author information

Author notes

  1. Markus M. Nöthen
    Present address: Department of Medical Genetics, University of Antwerp, Belgium
  2. Regina C. Betz and Benedikt G. H. Schoser: These authors contributed equally to this work.

Authors and Affiliations

  1. Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, Bonn, D-53111, Germany
    Regina C. Betz, Alfredo Ramírez, Markus M. Nöthen, Peter Propping & Christian Kubisch
  2. Zentrum für Molekulare Neurobiologie, Universität Hamburg, Hamburg, Germany
    Benedikt G. H. Schoser, Dagmar Kasper, Valentin Stein & Thomas J. Jentsch
  3. Neurologische Klinik, Universität Hamburg, Hamburg, Germany
    Benedikt G. H. Schoser
  4. Neurologische Klinik, Universität Würzburg, Würzburg, Germany
    Kenneth Ricker
  5. Department of Neurology, University Hospital Tromsø, Tromsø, Norway
    Torberg Torbergsen
  6. Gene Mapping Center, Max-Delbrück-Centrum, Berlin, Germany
    Young-Ae Lee & André Reis
  7. Institut für Medizinische Biometrie, Informatik und Epidemiologie, Universität Bonn, Bonn, Germany
    Thomas F. Wienker
  8. Neurologische, Universität Bochum, Bochum, Germany
    Jean-Pierre Malin & Matthias Vorgerd
  9. Pädiatrische Klinik, Universität Bochum, Bochum, Germany
    Wilhelm Mortier

Authors

  1. Regina C. Betz
    You can also search for this author inPubMed Google Scholar
  2. Benedikt G. H. Schoser
    You can also search for this author inPubMed Google Scholar
  3. Dagmar Kasper
    You can also search for this author inPubMed Google Scholar
  4. Kenneth Ricker
    You can also search for this author inPubMed Google Scholar
  5. Alfredo Ramírez
    You can also search for this author inPubMed Google Scholar
  6. Valentin Stein
    You can also search for this author inPubMed Google Scholar
  7. Torberg Torbergsen
    You can also search for this author inPubMed Google Scholar
  8. Young-Ae Lee
    You can also search for this author inPubMed Google Scholar
  9. Markus M. Nöthen
    You can also search for this author inPubMed Google Scholar
  10. Thomas F. Wienker
    You can also search for this author inPubMed Google Scholar
  11. Jean-Pierre Malin
    You can also search for this author inPubMed Google Scholar
  12. Peter Propping
    You can also search for this author inPubMed Google Scholar
  13. André Reis
    You can also search for this author inPubMed Google Scholar
  14. Wilhelm Mortier
    You can also search for this author inPubMed Google Scholar
  15. Thomas J. Jentsch
    You can also search for this author inPubMed Google Scholar
  16. Matthias Vorgerd
    You can also search for this author inPubMed Google Scholar
  17. Christian Kubisch
    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence toChristian Kubisch.

Supplementary information

Rights and permissions

About this article

Cite this article

Betz, R., Schoser, B., Kasper, D. et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.Nat Genet 28, 218–219 (2001). https://doi.org/10.1038/90050

Download citation

This article is cited by