Article
Protein aggregation in congenital myopathies.
Seminars in pediatric neurology - 1 Dec 2011
Goebel Hans H, Blaschek Astrid
Abstract excerpt
Protein aggregation in congenital myopathies may be encountered among different myofibrillar myopathies such as granulofilamentous myopathy, cytoplasmic body myopathy, or spheroid body myopathy, which are designated as αB crystallinopathy, desminopathy, and myotilinopathy, respectively, according to the respective mutant proteins. Caps in cap disease and reducing bodies in reducing body myopathy were disclosed to...
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