title: Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
abstract: Mutations in CAV3 gene encoding the protein caveolin-3 are associated with autosomal dominant limb girdle muscular dystrophy 1C, rippling muscle disease, hyperCKemia, distal myopathy, hypertrophic cardiomyopathy and rare autosomal recessive limb girdle muscular dystrophy phenotypes. In a 57-year-old patient with asymmetric limb girdle weakness, we detected a novel homozygous intronic mutation (IVS1 + 2T > C) of the CAV3 gene. This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations.
authors.affiliation: Department of Neurology, Friedrich-Baur-Institute, Lab. for Molecular Myology, Ludwig-Maximilians-University, Marchioninistr. 17, 81377 Munich, Germany.
authors.forename: Juliane S
authors.initials: JS
authors.lastname: Müller
authors.forename: Henriett
authors.initials: H
authors.lastname: Piko
authors.forename: Benedikt G H
authors.initials: BG
authors.lastname: Schoser
authors.forename: Beate
authors.initials: B
authors.lastname: Schlotter-Weigel
authors.forename: Peter
authors.initials: P
authors.lastname: Reilich
authors.forename: Stefanie
authors.initials: S
authors.lastname: Gürster
authors.forename: Christine
authors.initials: C
authors.lastname: Born
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
authors.forename: Dieter
authors.initials: D
authors.lastname: Pongratz
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
mesh_terms: D001483:Base Sequence; D001706:Biopsy; D051244:Caveolin 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D008969:Molecular Sequence Data; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D022821:RNA Splice Sites