Two unrelated patients with novel homozygous missense mutations (L86P and A92T) in caveolin-3 gene (CAV3), presenting with a severe form of rippling muscle disease (RMD), are reported from the University of Bonn, and other centers in Germany
Caveolins are essential proteins in caveolae architecture, small plasma membrane invaginations that ...
Problem: Die molekulargenetische Untersuchung des Caveolin-3 Gens auf pathogene Mutationen bei Pati...
Background: Caveolin-3 is the muscle-specific protein product of the caveolin gene family and an int...
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise ...
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...
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by me...
Caveolin-3 is the muscle-specific protein of the caveolin family. It is expressed both in cardiac an...
We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years a...
Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, ...
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...
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...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
Caveolins are essential proteins in caveolae architecture, small plasma membrane invaginations that ...
Problem: Die molekulargenetische Untersuchung des Caveolin-3 Gens auf pathogene Mutationen bei Pati...
Background: Caveolin-3 is the muscle-specific protein product of the caveolin gene family and an int...
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise ...
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...
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by me...
Caveolin-3 is the muscle-specific protein of the caveolin family. It is expressed both in cardiac an...
We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years a...
Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, ...
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...
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...
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi...
Caveolins are essential proteins in caveolae architecture, small plasma membrane invaginations that ...
Problem: Die molekulargenetische Untersuchung des Caveolin-3 Gens auf pathogene Mutationen bei Pati...
Background: Caveolin-3 is the muscle-specific protein product of the caveolin gene family and an int...
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