Pathology and genetics of congenital myopathies in single neuromuscular center in Korea

Background: Congenital myopathies (CMPs) are a group of rare inherited myopathies caused by heterogenous genetic etiologies. Objective: In this study, we aimed to identify subtypes and genotypes of CMPs from our muscle biopsy depository. Patients and Methods: We have reviewed our muscle biopsy record and selected cases of CMPs based on clinical and pathological findings. For the selected cases, either targeted sequencing or whole exome...