Expanding the histopathological spectrum of CFL2-related myopathies

F Fattori; C Fiorillo; C Rodolico; G Tasca; M Verardo; E Bellacchio; S Pizzi; A Ciolfi; G Fagiolari; A Lupica; P Broda; M Pedemonte; M Moggio; C Bruno; M Tartaglia; E Bertini; A D'Amico

doi:10.1111/cge.13240

Expanding the histopathological spectrum of CFL2-related myopathies

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1234-1239
Number of pages	6
Journal	Clinical Genetics
Volume	93
Issue number	6
DOIs	https://doi.org/10.1111/cge.13240
Publication status	Published - Jun 1 2018

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title = "Expanding the histopathological spectrum of CFL2-related myopathies",

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.",

author = "F Fattori and C Fiorillo and C Rodolico and G Tasca and M Verardo and E Bellacchio and S Pizzi and A Ciolfi and G Fagiolari and A Lupica and P Broda and M Pedemonte and M Moggio and C Bruno and M Tartaglia and E Bertini and A D'Amico",

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TY - JOUR

T1 - Expanding the histopathological spectrum of CFL2-related myopathies

AU - Fattori, F

AU - Fiorillo, C

AU - Rodolico, C

AU - Tasca, G

AU - Verardo, M

AU - Bellacchio, E

AU - Pizzi, S

AU - Ciolfi, A

AU - Fagiolari, G

AU - Lupica, A

AU - Broda, P

AU - Pedemonte, M

AU - Moggio, M

AU - Bruno, C

AU - Tartaglia, M

AU - Bertini, E

AU - D'Amico, A

PY - 2018/6/1

Y1 - 2018/6/1

N2 - 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.

AB - 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.

U2 - 10.1111/cge.13240

DO - 10.1111/cge.13240

M3 - Article

SN - 0009-9163

VL - 93

SP - 1234

EP - 1239

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -

Expanding the histopathological spectrum of CFL2-related myopathies

Abstract

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