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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.
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
URL: https://doi.org/10.1111/cge.13240
DOI: 10.1111/cge.13240
PubMed id: 29457652
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