Associated Papers
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS et al.
International Journal of Molecular Sciences, 2020
Biochemical and pathological changes result from mutated Caveolin-3 in muscle.
González Coraspe JA et al.
Skeletal Muscle, 2018
CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J et al.
Acta Neurologica Scandinavica, 2015
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
Caveolinopathies: from the biology of caveolin-3 to human diseases.
Gazzerro E et al.
European Journal of Human Genetics : Ejhg, 2010
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
Reilich P et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2006
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
Müller JS et al.
Neuromuscular Disorders : Nmd, 2006
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
Kubisch C et al.
Annals of Neurology, 2005
Two novel CAV3 gene mutations in Japanese families.
Sugie K et al.
Neuromuscular Disorders : Nmd, 2004
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C et al.
Annals of Neurology, 2003
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