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]. This evidence concerns the gene CNTN1 and congenital myopathy.