title: A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
abstract: Three members of a family were known to have persistent elevated serum CK levels without muscle weakness. A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres, which was confirmed by Western blot analysis. Mutational analysis identified a novel heterozygous mutation: G-->A transition at nucleotide position 169 in exon 2 in the CAV-3 gene, generating a Val-->Met change at codon 57 of the aminoacid chain. This is the second mutation in the CAV-3 gene associated with familial isolated hyperCKaemia.
authors.affiliation: Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Alias
authors.forename: Pía
authors.initials: P
authors.lastname: Gallano
authors.forename: Dolores
authors.initials: D
authors.lastname: Moreno
authors.forename: Ramón
authors.initials: R
authors.lastname: Pujol
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Martínez-Matos
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
authors.forename: Isidro
authors.initials: I
authors.lastname: Ferrer
authors.forename: Montse
authors.initials: M
authors.lastname: Olivé
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy / Q000379:methods; D015153:Blotting, Western / Q000379:methods; D051244:Caveolin 3; D022461:Caveolins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000378:metabolism; D005091:Exons; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008715:Methionine / Q000235:genetics; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D009243:NAD / Q000378:metabolism; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012508:Sarcolemma / Q000235:genetics; D013194:Staining and Labeling; D014633:Valine / Q000235:genetics
chemical_list: D051244:Caveolin 3; D022461:Caveolins; D016189:Dystrophin; D009243:NAD; D008715:Methionine; D014633:Valine