Centronuclear myopathies

NB Romero, M Bitoun - Seminars in pediatric neurology, 2011 - Elsevier
Centronuclear myopathies (CNM) are inherited disorders characterized by a high incidence
of nuclei usually placed in rows in the central part of the muscle fibers. Three main forms of
CNM have been identified according to the mode of inheritance and clinical presentation:(1)
the X-linked recessive form, also named myotubular myopathy, presenting as a severe
prenatal or neonatal myopathy in the large majority of cases, caused by mutations in the
MTM1 gene;(2) the classical autosomal dominant and sporadic forms, associated with mild …