Zaspopathy in a large classic late-onset distal myopathy family.

Abstract excerpt

Distal myopathies have been associated with mutations in titin, dysferlin, GNE, desmin and myosin. Of these, only titin mutations were previously known to cause dominant late-onset distal myopathy. Recent findings, however, have indicated that patients affected with myofibrillar myopathy have a more distal than proximal muscle phenotype and a proportion of these may have mutations in myotilin, ZASP or filamin C,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adaptor Proteins, Signal Transducing
• Share to Biopsy