| http://purl.uniprot.org/citations/29457652 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29457652 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13240"xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Tartaglia M."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Bruno C."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "D'Amico A."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Moggio M."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Bellacchio E."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Tasca G."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Verardo M."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Ciolfi A."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Pizzi S."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Broda P."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Fagiolari G."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Fiorillo C."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Rodolico C."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Pedemonte M."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Fattori F."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/author | "Lupica A."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/pages | "1234-1239"xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/title | "Expanding the histopathological spectrum of CFL2-related myopathies."xsd:string |
| http://purl.uniprot.org/citations/29457652 | http://purl.uniprot.org/core/volume | "93"xsd:string |