Myopathy Research

Approximately 1 in 1000 persons in Sweden suffer from a neuromuscular disorder. Most of these are hereditary, Several muscle diorders also affect the heart and cause cardiomyopathy. The aim of our research is to increase the knowledge of disease causing mechanisms in muscle disorders and cardiomyopathies, and to improve diagnosis and treatment of them. Our group has identified several novel mutations or genetic loci underlying muscle dirorders or cardiomtopathies (e.g demin, titin, troponin). Novel mutations identified in our group lead to continued analyses of how these affect functions of the muscle. The rearearch group is actively engaged and has leadning roles in national and international collaborations, e.g. in the EU project TREAT-NMD ”Network of excellence for neuromuscular disorders” (www.treat-nmd.eu) and NMD- CHIP ”Development of DNA-chip for diagnosis of neuromuscular disorders”.