What causes congenital fiber-type disproportion 5 (CFTD5)?

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

Autosomal dominant mutations in the gene for b-tropomyosin (TPM2) are a rare cause of CFTD. [61]  Mutations in TPM2 more commonly cause rod myopathy. Interestingly,  mutations in TPM2 and TPM3 can cause CFTD, nemaline rod myopathy, and cap myopathy suggesting that these may be related entities. Patients will present with neonatal hypotonia and delayed motor milestones as early features. Proximal, facial, and in severe cases, respiratory weakness is present.


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