Congenital myopathy with protein aggregates and nemaline bodies related to CFL2 mutations


Congenital myopathy (CM) caused by mutations in cofilin-2 gene (CFL2) is a rare neuromuscular disorder. The few reported cases show phenotypic heterogeneity ranging from early onset and rapid progressive form to milder myopathy characterized by limb girdle and axial muscles weakness. Muscle histology is also heterogeneous showing features of nemaline or myofibrillar myopathy or the coexistence of both histopathological changes. CFL2- null mutations result in more severe disease variants than those related to missense mutations although the precise mechanism through which cofilin-2 abnormality results in nemaline myopathy remains elusive.


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