centronuclear myopathy

Quick Reference

A group of muscle disorders (myotubular myopathy) in which there is slowly progressive muscular weakness and wasting. The autosomal dominant form can be caused by mutation in the gene encoding dynamin-2, the autosomal recessive form by mutations in the bridging integrator 1 gene. The X-linked form involves mutation in the myotubularin gene.

Subjects: Medicine and Health.

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