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Expanding the histopathological spectrum of CFL2 ‐related myopathies
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 year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13240
Subject(s) - nemaline myopathy , phenotype , myofibril , biology , myopathy , mutation , pathology , histology , genetics , gene , medicine , endocrinology
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.