Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.

Congenital myopathies (CMs) caused by mutation in cofilin‐2 gene (<italic>CFL2</italic>) show phenotypic heterogeneity ranging from early‐onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss‐of‐function mutations in <italic>CFL2</italic>. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2−/− knockout mouse model. [ABSTRACT FROM AUTHOR]