Additionally, we used ExomeDepth to predict CNVs from WES coverage data, as pathogenic CNVs have been identified in individuals with dystroglycanopathy in several studies including a ~ 63 kb intragenic deletion in LARGE1 in a case with WWS [56] and a ~ 1.6 kb deletion in POMGNT1 in an individual with MEB [57]. The gene discussed is POMGNT1; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.