Phenotypic variability associated with Arg26Gln mutation in caveolin3. Muscle Nerve 2004 Sep;30(3):375-8
Date
08/20/2004Pubmed ID
15318349DOI
10.1002/mus.20092Scopus ID
2-s2.0-4243061710 (requires institutional sign-in at Scopus site) 30 CitationsAbstract
Caveolin3 (CAV3) is a protein associated with dystrophin, dystrophin-associated glycoproteins, and dysferlin. Mutations in the CAV3 gene result in certain autosomal-dominant inherited diseases, namely, rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C (LGMD1C), distal myopathy, and hyperCKemia. In this report we show that a previously reported family with RMD has a mutation in the CAV3 gene. Affected individuals had either a characteristic RMD phenotype, a combination of RMD and LGMD1C phenotypes, or a LGMD1C phenotype, but one mutation carrier was asymptomatic at age 86 years. This phenotypic variability associated with mutations in CAV3 has been reported previously but only in a few families. It is important to remember the significant phenotypic variability associated with CAV3 mutations when counseling families with these mutations. These observations also suggest the presence of factors independent of the CAV3 gene locus that modify phenotype.
Author List
Fee DB, So YT, Barraza C, Figueroa KP, Pulst SMAuthor
Dominic B. Fee MD Vice Chair, Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AgedAged, 80 and over
Amino Acid Sequence
Amino Acid Substitution
Arginine
Caveolin 3
Caveolins
Female
Genetic Variation
Glutamine
Humans
Male
Muscular Diseases
Mutation
Pedigree
Phenotype
