Expanding the histopathological spectrum of CFL2-related myopathies

F. Fattori, C. Fiorillo, C. Rodolico, G. Tasca, M. Verardo, E. Bellacchio, S. Pizzi, A. Ciolfi, G. Fagiolari, A. Lupica, P. Broda, M. Pedemonte, M. Moggio, C. Bruno, M. Tartaglia, E. Bertini, A. D'Amico

Research output: Contribution to journalArticlepeer-review

Abstract

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
Volume93
Issue number6
DOIs
Publication statusPublished - 2018

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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