A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
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.
Alias
Laura
L
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Gallano
Pía
P
Moreno
Dolores
D
Pujol
Ramón
R
Martínez-Matos
Juan Antonio
JA
Baiget
Montserrat
M
Ferrer
Isidro
I
Olivé
Montse
M
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
D051244:Caveolin 3; D022461:Caveolins; D016189:Dystrophin; D009243:NAD; D008715:Methionine; D014633:Valine