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
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Torbergsen, T. Acta Neurol. Scand. 51, 225–232 (1975).
Ricker, K., Moxley, R.T. & Rohkamm, R. Arch. Neurol. 46, 405–408 (1989).
Stephan, D.A. et al. Neurology 44, 1915–1920.
Vorgerd, M. et al. Neurology 52, 1453–1459 (1999).
Tang, Z. et al. J. Biol. Chem. 271, 2255–2261 (1996).
Minetti, C. et al. Nature Genet. 18, 365–368 (1998).
Herrmann, R. et al. Hum. Mol. Genet. 9, 2335–2340 (2000).
Carbone, I. et al. Neurology 54, 1373–1376 (2000).
Galbiati, F., Volont, D., Minetti, C., Chu, J.B. & Lisanti, M.P. J. Biol. Chem. 274, 25632–25641 (1999).
Michel, T. & Feron, O. J. Clin. Invest. 100, 2146–2152 (1997).
Stamler, J.S. & Meissner, G. Physiol. Rev. 81, 209–237 (2001).
Hagiwara, Y. et al. Hum. Mol. Genet. 9, 3047–3054 (2000).
Sunada, Y. et al. T Hum. Mol. Genet. 10, 173–178 (2001).
Williams, G., Becker, L., Bryant, D., Willis, S. & Giroir, B.P. Am. J. Physiol. 270, R145–R152 (1996).
Tidball, J.G. et al. Am. J. Physiol. 275, C260–C266 (1998).
Author information
Authors and Affiliations
Corresponding author
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/90050
This article is cited by
-
In vivo cell biological screening identifies an endocytic capture mechanism for T-tubule formation
Nature Communications (2020)
-
Dystrophy-associated caveolin-3 mutations reveal that caveolae couple IL6/STAT3 signaling with mechanosensing in human muscle cells
Nature Communications (2019)
-
Unraveling the role of membrane microdomains during microbial infections
Cell Biology and Toxicology (2017)
-
Positive muscle phenomena—diagnosis, pathogenesis and associated disorders
Nature Reviews Neurology (2012)
-
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
Skeletal Muscle (2011)