Refining NGS diagnosis of muscular disorders

In our original publication by Sevy et al ,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the rapid evolution of genomic diagnostic data and interpretation standards, we now provide the re-evaluation of genetic diagnoses for this cohort. We reported in 2016 a patient (P8 in table 1) carrying a variant in KBTBD13 which led us to give a probable diagnosis implicating this gene.1...