New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

Myofibrillar myopathies are characterized by progressive muscle weakness and impressive abnormal protein aggregation in muscle fibers. In about 10 % of patients, the disease is caused by mutations in the MYOT gene encoding myotilin. The aim of our study was to decipher the composition of protein deposits in myotilinopathy to get new information about aggregate pathology.Skeletal muscle samples from 15 myotilinopathy patients were included in the...