Expanding the histopathological spectrum of CFL2‐related myopathies

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...

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Bibliographic Details
Published in:Clinical genetics 2018-06, Vol.93 (6), p.1234-1239
Main Authors: 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.
Format: Article
Language:English
Subjects:
CFL2
Cofilin
cofilin‐2
congenital myopathy
Filaments
Mutation
myofibrillar myopathy
Myopathy
nemaline myopathy
NGS
Rods
sarcoplasmic aggregates
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13240