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Expanding the histopathological spectrum of CFL2-related myopathies

Lookup NU author(s): Professor Giorgio TascaORCiD


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© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons LtdCongenital 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.

Publication metadata

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

Publication type: Article

Publication status: Published

Journal: Clinical Genetics

Year: 2018

Volume: 93

Issue: 6

Pages: 1234-1239

Online publication date: 19/02/2018

Acceptance date: 14/02/2018

ISSN (print): 0009-9163

ISSN (electronic): 1399-0004

Publisher: Blackwell Publishing Ltd


DOI: 10.1111/cge.13240

PubMed id: 29457652


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