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 languageEnglish
Pages (from-to)1234-1239
Number of pages6
JournalClinical Genetics
Volume93
Issue number6
DOIs
Publication statusPublished - Jun 1 2018

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Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation
Knockout Mice
Genes
Histology

Cite this

@article{9358077e40474a3f8f61755f4b797c1b,
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",
note = "{\circledC} 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2018",
month = "6",
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doi = "10.1111/cge.13240",
language = "English",
volume = "93",
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journal = "Clinical Genetics",
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publisher = "Wiley-Blackwell Publishing Ltd",
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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

N1 - © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

VL - 93

SP - 1234

EP - 1239

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 6

ER -