title: Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
authors.forename: M
authors.initials: M
authors.lastname: Traverso
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: A
authors.initials: A
authors.lastname: Broccolini
authors.forename: F
authors.initials: F
authors.lastname: Sotgia
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: S
authors.initials: S
authors.lastname: Assereto
authors.forename: E
authors.initials: E
authors.lastname: Gazzerro
authors.forename: M
authors.initials: M
authors.lastname: Lo Monaco
authors.forename: A
authors.initials: A
authors.lastname: Modoni
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: S
authors.initials: S
authors.lastname: Gasperini
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: M
authors.initials: M
authors.lastname: Lisanti
authors.forename: C
authors.initials: C
authors.lastname: Minetti
mesh_terms: D000328:Adult; D001706:Biopsy; D051244:Caveolin 3 / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D009119:Muscle Contraction / Q000235:genetics; D009120:Muscle Cramp / Q000175:diagnosis / Q000235:genetics*; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018045:Receptors, Oxytocin / Q000235:genetics
chemical_list: D051244:Caveolin 3; D018045:Receptors, Oxytocin; D003402:Creatine Kinase