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centronuclear myopathy

 

Definition: slowly progressive generalized muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibers are seen to be located near the center of a small fiber (the normal position for a 10-week embryo) rather than at the periphery of the fiber; familial incidence. Autosomal dominant [MIM*160150] recessive [MIM*255200] and X-linked [310400] forms occur. The X-linked form is caused by mutation in the myotubular myopathy gene (MTM1) on Xq28.

Synonym(s): myotubular myopathy

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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