X-linked myotubular myopathy: A brief update

Abstract

X-linked myotubular myopathy, included in the centronuclear myopathies (CNM), is a severe congenital disorder caused by mutations of the gene MTM1. With a recessive hereditary pattern linked to the X chromosome, this disorder shows a varied symptomatology and a specific histopathological pattern. The current treatment of this rare disease is still undergoing research, although gene therapy is being focalized.