Therefore we cannot either exclude or confirm a link between FBN2 haploinsufficiency and AMC MEGF10 (multiple epidermal growth factor-like domains protein 1) codes for a membrane receptor involved in the phagocytosis of apoptotic cells by macrophages and astrocytes, and biallelic mutations are associated with myopathy, areflexia, respiratory distress and dysphagia. Here, FBN2 is linked to myopathy.