Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.
Carbone
I
I
Servizio Malattie Neuro-Muscolari, Università di Genova, Istituto G. Gaslini, Italy.
Bruno
C
C
Sotgia
F
F
Bado
M
M
Broda
P
P
Masetti
E
E
Panella
A
A
Zara
F
F
Bricarelli
F D
FD
Cordone
G
G
Lisanti
M P
MP
Minetti
C
C
D000595:Amino Acid Sequence; D051244:Caveolin 3; D022461:Caveolins; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood*; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics*; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*
D051244:Caveolin 3; D022461:Caveolins; D006023:Glycoproteins; D008565:Membrane Proteins; D003402:Creatine Kinase