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J Pediatr Orthop. 2007 Jan-Feb;27(1):98-103.

Orthopaedic complications of myotubular myopathy.

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  • 1Department of Orthopaedic Surgery and Rehabilitation, Loyola University Medical Center, Maywood, IL 60513, USA.


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.

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