Expanding the histopathological spectrum of CFL2-related myopathies.
Clin Genet
; 93(6): 1234-1239, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29457652
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cofilina 2
/
Doenças Musculares
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Animals
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
/
Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article