What causes congenital fiber-type disproportion 2 (CFTD2)?

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

This is an X-linked recessive disease that has been described in patients with mutation in to two regions of the X chromosome, Xp22.13 to Xp11.4 and Xq13.1 to Xq22.1. From birth, these patients had marked ptosis, facial weakness, poor sucking, hypotonia, respiratory weakness, and relatively preserved limb strength. In one patient, there was a mild dilated cardiomyopathy that developed in infancy. [57]  


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