Myocapture : novel for genes Myopathies
Myopathies are a genetically highly heterogeneous group of diseases with nearly half of affected patients lacking a genetic diagnosis, indicating the presence of additional genes. We aim to identify novel genes mutated in myopathies by sequencing the exome of 1000 individuals from families with different forms of myopathies. Patients have been characterized at the clinical and histological levels in details and materials stored in the partner reference centers for neuromuscular diseases and DNA banks. The 7 partners will bring their complementary expertise in patient characterization, data analysis and functional myology to validate the disease-causing variations. This collaborative project aims to valorize the unique French Myology expertise and identify the remaining myopathy genes.