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Updated: Aug 11, 2026
07:59
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
A new missense mutation in caveolin-3 gene causes rippling muscle disease
M Teresa Dotti1, Alessandro Malandrini, Simona Gambelli
1Department of Neurological and Behavioral Sciences, University of Siena, Italy. dotti@unisi.it
Journal of the Neurological Sciences
|February 7, 2006
Abstract:
Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.
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