Expanding the histopathological spectrum of CFL2‐related myopathies. Issue 6 (25th March 2018)

• Record Type: Journal Article
• 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.
• Is Part Of: Clinical genetics. Volume 93:Issue 6(2018)
• Page Start: 1234
• Page End: 1239
• Publication Date: 2018-03-25
• Subjects: CFL2 -- cofilin‐2 -- congenital myopathy -- myofibrillar myopathy -- nemaline myopathy -- NGS -- sarcoplasmic aggregates; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13240
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract :