X-linked myotubular myopathy is a severe congenital myopathy that presents in the neonatal
period with profound hypotonia and an inability to establish spontaneous respiration.
Usually death occurs in infancy from respiratory failure. However, there is phenotypic
variability; a number of affected boys have achieved respiratory independence and become
ambulatory. Disease-causing mutations have been identified throughout the MTM1 gene on
Xq28. MTM1 encodes the protein myotubularin, which is expressed ubiquitously. The main …