RYR1 and congenital myopathy with cores: In addition, some of the genes implicated in congenital myopathies belong to the largest genes of the human genome, as TTN (363 exons; MIM#188840) mutated in congenital myopathy with fatal cardiomyopathy, NEB (183 exons; MIM#161650) mutated in nemaline myopathy, or RYR1 (106 exons; MIM#180901) mutated in different pathologies.