1216 X-Linked Myotubular Myopathy in a Symptomatic Female Carrier

X-Linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder characterized by mild to severe muscle weakness. It is caused by a mutation in the myotubularin (MTM1) gene. The diagnosis is considered in young male neonates with muscle weakness and hypotonia. The disorder predominantly affects males, but female carriers develop a range of symptoms. Only 24 cases of symptomatic female carriers are reported in the literature. We...