[The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies]

A significant number of patients with congenital myopathy remain undiagnosed, complicating their clinical management, genetic counseling, and limiting access to therapeutic trials or existing treatments. This study, conducted as part of the MYOCAPTURE research project, aimed to identify novel mutations and genes by analyzing the exome of 310 families affected by genetically undiagnosed congenital myopathies. A genetic diagnosis was established for 123 families (40%). Among the diagnosed cases, only 44 (36%) had mutations in a known gene associated with a classical phenotype. Fifty-five families (44%) had mutations in known genes but associated with atypical phenotypes. And in 20% of the cases, we identified the involvement of 14 novel myopathy genes. This study highlights the relevance of untargeted high-throughput sequencing, such as exome sequencing, for the diagnosis of congenital myopathies and contributes to improving their clinical management.