Rippling muscle disease
Definition:
References:
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[1]. Elisabetta Gazzerro, et al. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. [Content Brief]
[2]. Graham D Lamb, et al. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. Muscle Nerve. 2005 May;31(5):652-8. [Content Brief]
[3]. R C Betz, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001 Jul;28(3):218-9. [Content Brief]