Expanding the histopathological spectrum of CFL2-related myopathies

Clin Genet. 2018 Jun;93(6):1234-1239. doi: 10.1111/cge.13240. Epub 2018 Mar 25.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Animals
  • Child
  • Child, Preschool
  • Cofilin 2 / chemistry
  • Cofilin 2 / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mice
  • Muscle, Skeletal / pathology
  • Muscular Diseases / pathology*
  • Young Adult


  • Cofilin 2