title: Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
authors.forename: Christian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Uwe-Peter
authors.initials: UP
authors.lastname: Ketelsen
authors.forename: Ingrid
authors.initials: I
authors.lastname: Goebel
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D051244:Caveolin 3; D022461:Caveolins / Q000235:genetics*; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D022461:Caveolins