Laurence Michel-Calemard

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing

Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. The French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now revise these lists and add...