Condition: Rippling muscle disease
rs28936686
in
SSUH2;CAV3
gene and
Rippling muscle disease
PMID 19697367
2010 Rippling muscle disease: variable phenotype in a family with five afflicted members.
PMID 15668980
2005 Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
PMID 12666119
2003 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.