Abstract

A case of a myotubular myopathy in a 5 year old boy is described. This was the first and the only boy to a 30 year old mother who had no prenatal or perinatal problems. No family history of muscle disease was present. His muscle weakness started from neonatal period but was very slowly progressive. The developmental milestones were generally delayed. He had repeated episodes of pneumonia. Muscle biopsy revealed characteristic cental nuclei in 68% of myofibers, and this findings was associated with generally small and round fibers and minimal interstitial change. No inflammatory reaction was present.

• Keywords: Myotubular myopathy;congenital myopathy;centronuclear myopathy;