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.
Keywords: CFL2; NGS; cofilin-2; congenital myopathy; myofibrillar myopathy; nemaline myopathy; sarcoplasmic aggregates.
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.