X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation

Abstract

X-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. Female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.