Article
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Human mutation - 1 Mar 2009
Clemen Christoph S, Fischer Dirk, Reimann Jens, Eichinger Ludwig, Müller Clemens R, Müller Harald D, Goebel Hans H, Schröder Rolf
Abstract excerpt
Myofibrillar myopathies are caused by mutations in desmin, alphaB-crystallin, myotilin, ZASP, and filamin C genes. Since the vast majority of myofibrillar myopathy causing mutations are heterozygous single amino acid substitutions or small in-frame deletions, the pathogenic role of mutant versus wild-type protein cannot be assessed in human skeletal muscle by standard immunodetection techniques. We report on an...
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