Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
Kubisch
Christian
C
Ketelsen
Uwe-Peter
UP
Goebel
Ingrid
I
Omran
Heymut
H
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
C417736:CAV3 protein, human; D051244:Caveolin 3; D022461:Caveolins