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. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Original languageEnglish
Pages (from-to)1234-1239
Number of pages6
JournalClinical Genetics
Volume93
Issue number6
DOIs
Publication statusPublished - 2018

Keywords

  • cofilin 2
  • messenger RNA, apnea
  • Article
  • case report
  • child
  • clinical article
  • clinical feature
  • congenital myopathy
  • disease severity
  • dysphagia
  • extraocular muscle
  • female
  • heterozygote
  • histopathology
  • homozygote
  • human
  • loss of function mutation
  • male
  • muscle biopsy
  • muscle hypotonia
  • muscle weakness
  • myopathy
  • nutritional support
  • preschool child
  • priority journal
  • respiratory failure
  • school child
  • thin filament
  • whole exome sequencing

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