Associated Papers
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Sundblom J et al.
Muscle & Nerve, 2010
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
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
Traverso M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
Ueyama H et al.
Neuromuscular Disorders : Nmd, 2007
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
Select a paper to view details