Frameshift deletions leading to translation of non-functional truncated protein, or complete mRNA loss in MEGF10 [[51], [52], [53]] associate with a recessive congenital severe myopathy called Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset (EMARDD; OMIM: 614399). Here, MEGF10 is linked to myopathy.