Caveolae are striking morphological features of the plasma membrane of mammalian cells.
Caveolins, the major proteins of caveolae, play a crucial role in the formation of these …

Background—Congenital long-QT syndrome (LQTS) is a primary arrhythmogenic syndrome
stemming from perturbed cardiac repolarization. LQTS, which affects≈ 1 in 3000 persons, is …

Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7
autosomal-dominant (LGMD1A to E) and 10 autosomal-recessive (LGMD2A to J). To …

Mutations in the dysferlin (DYSF) and caveolin-3 (CAV3) genes are associated with muscle
disease. Dysferlin is mislocalized, by an unknown mechanism, in muscle from patients with …

Abstract Calpain 3 (CAPN3) is a calcium‐dependent protease, mutations in which cause
limb girdle muscular dystrophy type 2A. To explore the physiological function of CAPN3, we …

Caveolae and their coat proteins, caveolins, co-ordinate multiple signaling pathways.
Caveolin-3 is a muscle-specific caveolin isoform that is deficient in limb girdle muscular …

As caveolin‐3 deficiencies may explain persistent hyper‐CK‐emia, we performed CAV3
gene mutation analysis and immunohistochemistry for caveolin‐3 in 31 patients with …

Mutations in CAV3 gene encoding the protein caveolin-3 are associated with autosomal
dominant limb girdle muscular dystrophy 1C, rippling muscle disease, hyperCKemia, distal …

There is no doubt that the study of the muscular dystrophies in recent years has been
exciting and rewarding. It has attracted the attention of many investigators of international …

Sarcoglycanopathies (SGpathies) are highly frequent among severely affected limb-girdle
muscular dystrophy patients. On the basis of the findings of 5 common mutations in the 4 …