Myofibrillar Myopathies
Myofibrillar myopathies (MFM) are hereditary muscle disorders characterized by progressive damage to cardiac and skeletal muscles, progressive paralysis with mostly severe physical impairments, and often lead to premature death through respiratory muscle involvement and impaired cardiac function. Hallmarks are the appearance of protein aggregates, progressive dissociation of the myofibrils and increased autophagy. Myofibrillar myopathies belong as a subgroup to striated muscle protein aggregation disorders (PAMs). Our main focus is an ultrastructural characterization of SM biopsies from patients and the elucidation of results with our cooperations. There are currently no specific therapeutic options for patients affected by myofibrillar myopathies. We cooperate with: http://heimer-institut.de