title: Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
abstract: The authors report a 71-year-old woman with limb-girdle muscular dystrophy (LGMD) associated with an R27Q mutation in the CAV3 gene. Immunohistochemistry showed a >90% reduction of caveolin-3 on the sarcolemma by western blot, and anti-dysferlin immunoreactivity was reduced. This case emphasizes that an R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyperCKemia, rippling muscle disease, distal myopathy, and LGMD1C.
authors.affiliation: Service d'anatomie pathologique et de neuropathologie, Département de génétique médicale, Campus Hospitalier et Universitaire de la Timone, Marseille, France. Dominique.Figarella-Branger@medecine.univ-mrs.fr
authors.forename: D
authors.initials: D
authors.lastname: Figarella-Branger
authors.forename: J
authors.initials: J
authors.lastname: Pouget
authors.forename: R
authors.initials: R
authors.lastname: Bernard
authors.forename: M
authors.initials: M
authors.lastname: Krahn
authors.forename: C
authors.initials: C
authors.lastname: Fernandez
authors.forename: N
authors.initials: N
authors.lastname: Lévy
authors.forename: J F
authors.initials: JF
authors.lastname: Pellissier
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001706:Biopsy; D051244:Caveolin 3; D022461:Caveolins / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D052283:Creatine Kinase, MM Form; D000073939:Dysferlin; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000172:deficiency; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D022461:Caveolins; C114839:DYSF protein, human; D000073939:Dysferlin; D007527:Isoenzymes; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase; D052283:Creatine Kinase, MM Form