Phenotypic variability in rippling muscle disease

Abstract

To the Editor: Vorgerd et al. are to be commended for their description of phenotypic variability in two previously unreported kindreds with autosomal dominant rippling muscle disease (RMD).1 Accurate description of the clinical manifestations of rippling muscle disorders is important because of the potential basic science ramifications. Because these disorders are typified by stretch or percussion-induced contractions that are “electrically silent” (i.e., without myotonia), we have suggested that these disorders represent the first clinical evidence for the existence of stretch-activated or mechanosensitive channels in humans. …