Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
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.
Müller
Juliane S
JS
Department of Neurology, Friedrich-Baur-Institute, Lab. for Molecular Myology, Ludwig-Maximilians-University, Marchioninistr. 17, 81377 Munich, Germany.
Piko
Henriett
H
Schoser
Benedikt G H
BG
Schlotter-Weigel
Beate
B
Reilich
Peter
P
Gürster
Stefanie
S
Born
Christine
C
Karcagi
Veronika
V
Pongratz
Dieter
D
Lochmüller
Hanns
H
Walter
Maggie C
MC
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*
C417736:CAV3 protein, human; D051244:Caveolin 3; D022821:RNA Splice Sites