Definition:

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy (XLMTM) with severe neonatal phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM.