G.P.7.09 Functional studies of aberrant beta-tropomyosin causing nemaline myopathy and cap myopathy

Tropomyosins together with the troponin complex regulate the binding of actin to myosin during muscle contraction. In humans tropomyosins are encoded by at least four different genes, TPM1-4. Mutations in the beta-tropomyosin (TPM2) gene have been reported in patients with nemaline myopathy, cap myopathy and distal arthrogryposis. The aim of the study is to shed light on the pathogenetic pathways leading from six mutations identified in TPM2 to clinical muscle weakness and structural abnormalities in the patients muscle fibres.