Key result
Novel loss-of-function mutations in CFL2 caused severe congenital myopathy with peculiar histopathological changes including nemaline bodies and thin filaments accumulations.
Case Report (n=3)
This report expands the histopathological spectrum of CFL2-related myopathies by describing novel mutations associated with nemaline bodies and thin filament accumulations.
May broaden congenital myopathy differentials; extends CFL2 spectrum but hypothesis-generating and should not change practice.
Congenital myopathies (CMs) caused by mutation in cofilin‐2 gene (CFL2) 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 CFL2. 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.
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Fattori et al. (2018) conducted a case report in Congenital myopathies caused by mutation in cofilin-2 gene (CFL2) (n=3). Novel homozygous or compound heterozygous loss-of-function mutations in CFL2 was evaluated on Histopathological changes. Novel loss-of-function mutations in CFL2 caused severe congenital myopathy with peculiar histopathological changes including nemaline bodies and thin filaments accumulations.
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