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Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.
Cofilin-2: Molecular Function and it's Role in Myopathies