Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experience

Muscular dystrophy ( MD ) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb‐girdle MD ( LGMD )‐related genes in 35 patients who were highly suspected of having MD . We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic diagnosis was performed in 20 patients (57.1%). LGMD2B was the most common LGMD type, followed by LGMD1B , LGMD2A , and LGMD2G . Among the three major LGMD types in this group, LGMD1B was correlated with the lowest creatine kinase ( CK ) levels and the earliest onset, whereas LGMD2B was correlated with the highest CK levels and the latest onset. Thus, next‐generation sequencing‐based gene panels can be a helpful tool for the diagnosis of MDs , particularly in young children and those displaying atypical symptoms.