Impaired cell recycling leads to muscle weakness in rare genetic disorder

Myofibrillar myopathy type 6 (MFM6) is a rare genetic muscle disorder that leads to severe muscle weakness and a drastically shortened life expectancy due to a disruption in muscle protein regulation. Researchers at the University Hospital Bonn (UKB) and the University of Bonn have developed a mouse model for the disease and were thus able to show that a disruption in cellular recycling—known technically as autophagy—is the primary trigger for the disease. Their findings have been published in Nature Communications.