Congenital myopathies

Most congenital myopathies have been defined on account of the morphologica l findings in enzyme histochemical preparations. In effect, the diagnosis o f this group of diseases continues to be made on the histological pattern o f muscle biopsies. However, progress has been made in elucidating the molec ular genetic background of several of the congenital myopathies. In this up dated review we address those congenital myopathies for which gene defects and mutant proteins have been found (central core disease, nemaline myopath ies, desminopathy, actinopathy, certain vacuolar myopathies, and myotubular myopathy) and the other disease with central nuclei (centronuclear myopath y).