A case of rippling muscle disease is presented and features of this rare condition, and its association with caveolin-3 are discusse
Caveolin-3 is the muscle-specific protein of the caveolin family. It is expressed both in cardiac an...
Mutations in the caveolin-3 gene (CAV3) cause limb girdle muscular dystrophy (LGMD) type 1C (LGMD1C)...
International audienceBackground and purpose: CAV3 gene mutations, mostly inherited as an autosomal ...
Inherited rippling muscle disease is an autosomal dominant disorder usually associated with caveolin...
We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years a...
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise ...
Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease pheno...
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise ...
Two unrelated patients with novel homozygous missense mutations (L86P and A92T) in caveolin-3 gene (...
Caveolin-3, the myocyte-specific isoform of caveolins, is preferentially expressed in skeletal, card...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, ...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
AbstractWe report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) assoc...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
Caveolin-3 is the muscle-specific protein of the caveolin family. It is expressed both in cardiac an...
Mutations in the caveolin-3 gene (CAV3) cause limb girdle muscular dystrophy (LGMD) type 1C (LGMD1C)...
International audienceBackground and purpose: CAV3 gene mutations, mostly inherited as an autosomal ...
Inherited rippling muscle disease is an autosomal dominant disorder usually associated with caveolin...
We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years a...
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise ...
Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease pheno...
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise ...
Two unrelated patients with novel homozygous missense mutations (L86P and A92T) in caveolin-3 gene (...
Caveolin-3, the myocyte-specific isoform of caveolins, is preferentially expressed in skeletal, card...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, ...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
AbstractWe report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) assoc...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
Caveolin-3 is the muscle-specific protein of the caveolin family. It is expressed both in cardiac an...
Mutations in the caveolin-3 gene (CAV3) cause limb girdle muscular dystrophy (LGMD) type 1C (LGMD1C)...
International audienceBackground and purpose: CAV3 gene mutations, mostly inherited as an autosomal ...
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