X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by
mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal
phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3, 5P2.
XLMTM is clinically characterized by profound muscle weakness and associated with
multiple disabilities (including ventilator and wheelchair dependence) and early death in
most affected individuals. The disease is classically defined by characteristic changes …