What causes nemaline myopathy 7 (NEM7)?

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

NEM7 is due to an autosomal recessive mutation in the gene for cofilin-2 (CFL2) and has been described in one family. [23]  Cofilins are actin-modulating proteins that act to depolymerize F-actin and inhibit the polymerization of G-actin. Cofilin-2 is a muscle-specific isoform that exerts its effect on actin, in part, through interactions with tropomyosin.

The patients presented at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.


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