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. The gene discussed is FAT2; the disease is myopathy.