Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

The sixth thin-filament-related nemaline myopathy (NM) gene called CFL2 is identified encoding the actin-binding protein muscle cofilin-2, which is mutated in two siblings with congenital myopathy. It is found that cofilin-2 levels are significantly lower in the proband's muscle and the mutant protein is less soluble when expressed in Escherichia coli, suggesting that deficiency of cofilin-2 may result in reduced depolymerization of actin filaments.