Patients suffer progressive muscle weakness over many years and have reduced life expectancy due to respiratory muscle failure and cardiac complications. Whilst structural failure of the muscle fibre is a feature of myofibrillar myopathies not all of the proteins associated with myofibrillar myopathy ...
Desminopathy (MIM601419) has been the first-described form of myofibrillar myopathy (MFM), a heterogeneous group of muscle disorders caused by mutations in genes that encode proteins with a main structural or functional role in Z-disc. Desmin is the key component of the intermediate filament (...