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Orthopaedic Complications of Myotubular Myopathy

Myotubular myopathy is a rare genetic disease that was uniformly fatal until recent developments in long-term ventilation. Today, however, it is not unusual for a patient to live into the second decade. The orthopaedic manifestations of the disease have not been reported in the literature. We present our experience with complications related to the spine and extremities in a series of 4 patients with this disease who have survived beyond early childhood.