Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy
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DOI: 10.1093/hmg/ddaf102
Abstract: Abstract Cofilin-2, encoded by CFL2, is an actin-binding protein essential for regulating actin filament dynamics in skeletal muscle. Biallelic variants in CFL2 are associated with an ultra-rare, early-onset myopathy typically presenting as nemaline myopathy. Only… read more here.
Keywords: variants cfl2; actin depolymerisation; cfl2 related; cfl2 ... See more keywords