Biallelic loss of function of MEGF10 causes MEGF10 myopathy or Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD), which involves areflexia, respiratory distress, and dysphagia (Table 2; Logan et al., 2011; Saha et al., 2017). This evidence concerns the gene MEGF10 and MEGF10-related myopathy.