What causes centronuclear myopathy 2 (CNM2)?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

CNM2

CNM2 is caused by amphiphysin 2 (bridging integrator 1; BIN1). Amphiphysins are involved in endocytosis, signal transduction, transcriptional regulation, and vesicle fusion. Amphiphysin 2 mutations have been shown to impair T-tubule function, formation, or maintenance. BIN1 protein binds to DNM2 protein and mutations in BIN1 may disrupt this binding or binding to T-tubules.

This centronuclear myopathy typically presents at birth but can present in childhood as well. In addition to weakness, there can be contractures, dilated cardiomyopathy, and intellectual disability. The course is slowly progressive, with more than 50% of patients surviving childhood. [44]


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