In humans, the CNTN1 gene, encoding contactin-1, a neural adhesion and neuromuscular junction (NMJ) protein, whose mutations can impair communication or adhesion between nerve and muscle leading to severe myopathic phenotype, as severe congenital myopathy with fetal akinesia (FA) and nonspecific myopathic features on muscle biopsy [85]. The gene discussed is CNTN1; the disease is congenital myopathy with cores.