A new missense mutation in caveolin-3 gene causes rippling muscle disease.
Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.
Dotti
M Teresa
MT
Department of Neurological and Behavioral Sciences, University of Siena, Italy. dotti@unisi.it
Malandrini
Alessandro
A
Gambelli
Simona
S
Salvadori
Claudio
C
De Stefano
Nicola
N
Federico
Antonio
A
D000328:Adult; D000368:Aged; D021941:Caveolae / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D051244:Caveolin 3 / Q000172:deficiency / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*
D051244:Caveolin 3