Expanding the histopathological spectrum of CFL2-related myopathies

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)1234-1239
JournalClinical Genetics
Issue number6
Publication statusPublished - 2018



  • CFL2
  • Cofilin-2
  • Congenital myopathy
  • Myofibrillar myopathy
  • Nemaline myopathy
  • NGS
  • Sarcoplasmic aggregates

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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