Centronuclear myopathies (CNM) are a group of congenital myopathies classically defined
by the presence of an abnormally high number of muscle fibres with nuclei organised in
rows in the central part of the fibre. Over recent years there have been important advances in
the knowledge of the genetic bases of the three main forms of CNM: the X-linked recessive
form or myotubular myopathy (XLMTM) with severe neonatal phenotype, caused by
mutations in the MTM1 gene; the classical autosomal dominant forms with mild, moderate or …