title: A new missense mutation in caveolin-3 gene causes rippling muscle disease.
abstract: Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.
authors.affiliation: Department of Neurological and Behavioral Sciences, University of Siena, Italy. dotti@unisi.it
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.forename: Simona
authors.initials: S
authors.lastname: Gambelli
authors.forename: Claudio
authors.initials: C
authors.lastname: Salvadori
authors.forename: Nicola
authors.initials: N
authors.lastname: De Stefano
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D000368:Aged; D021941:Caveolae / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D051244:Caveolin 3 / Q000172:deficiency / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D051244:Caveolin 3