FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3040258002> ?p ?o ?g. }

• W3040258002 endingPage "914" @default.
• W3040258002 startingPage "908" @default.
• W3040258002 abstract "Abstract Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies. Mutations in different functional domains of FLNC can cause various clinical phenotypes. A novel heterozygous missense variant c.608G&gt;A, p.(Cys203Tyr) in the actin binding domain of FLCN was found to cause an upper limb distal myopathy (MIM #614065). The muscle MRI findings are similar to those observed in FLNC-myofibrillar myopathy (MIM #609524). However, the muscle biopsy revealed &gt;20% of muscle fibers with nemaline bodies, in addition to numerous ring fibers and a predominance of type 1 fibers. Overall, this case shows some unique and rare aspects of FLNC-myopathy constituting a new morphologic phenotype of FLNC-related myopathies." @default.
• W3040258002 created "2020-07-10" @default.
• W3040258002 creator A5000999343 @default.
• W3040258002 creator A5018449980 @default.
• W3040258002 creator A5019220585 @default.
• W3040258002 creator A5026191697 @default.
• W3040258002 creator A5027139411 @default.
• W3040258002 creator A5054788134 @default.
• W3040258002 creator A5058837660 @default.
• W3040258002 creator A5061840627 @default.
• W3040258002 creator A5075931186 @default.
• W3040258002 creator A5082271426 @default.
• W3040258002 creator A5082974155 @default.
• W3040258002 creator A5084417387 @default.
• W3040258002 creator A5085289587 @default.
• W3040258002 date "2020-06-30" @default.
• W3040258002 modified "2023-10-10" @default.
• W3040258002 title "A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers" @default.
• W3040258002 cites W1585579342 @default.
• W3040258002 cites W2020303641 @default.
• W3040258002 cites W2036783352 @default.
• W3040258002 cites W2055031663 @default.
• W3040258002 cites W2059145105 @default.
• W3040258002 cites W2077237370 @default.
• W3040258002 cites W2131809876 @default.
• W3040258002 cites W2162121601 @default.
• W3040258002 cites W2331086440 @default.
• W3040258002 cites W2558155481 @default.
• W3040258002 cites W2765100663 @default.
• W3040258002 cites W2900686281 @default.
• W3040258002 cites W2921179102 @default.
• W3040258002 doi "https://doi.org/10.1093/jnen/nlaa052" @default.
• W3040258002 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32607581" @default.
• W3040258002 hasPublicationYear "2020" @default.
• W3040258002 type Work @default.
• W3040258002 sameAs 3040258002 @default.
• W3040258002 citedByCount "9" @default.
• W3040258002 countsByYear W30402580022020 @default.
• W3040258002 countsByYear W30402580022021 @default.
• W3040258002 countsByYear W30402580022022 @default.
• W3040258002 countsByYear W30402580022023 @default.
• W3040258002 crossrefType "journal-article" @default.
• W3040258002 hasAuthorship W3040258002A5000999343 @default.
• W3040258002 hasAuthorship W3040258002A5018449980 @default.
• W3040258002 hasAuthorship W3040258002A5019220585 @default.
• W3040258002 hasAuthorship W3040258002A5026191697 @default.
• W3040258002 hasAuthorship W3040258002A5027139411 @default.
• W3040258002 hasAuthorship W3040258002A5054788134 @default.
• W3040258002 hasAuthorship W3040258002A5058837660 @default.
• W3040258002 hasAuthorship W3040258002A5061840627 @default.
• W3040258002 hasAuthorship W3040258002A5075931186 @default.
• W3040258002 hasAuthorship W3040258002A5082271426 @default.
• W3040258002 hasAuthorship W3040258002A5082974155 @default.
• W3040258002 hasAuthorship W3040258002A5084417387 @default.
• W3040258002 hasAuthorship W3040258002A5085289587 @default.
• W3040258002 hasBestOaLocation W30402580021 @default.
• W3040258002 hasConcept C104317684 @default.
• W3040258002 hasConcept C142669718 @default.
• W3040258002 hasConcept C142724271 @default.
• W3040258002 hasConcept C1491633281 @default.
• W3040258002 hasConcept C153911025 @default.
• W3040258002 hasConcept C20563397 @default.
• W3040258002 hasConcept C2775934546 @default.
• W3040258002 hasConcept C2777300911 @default.
• W3040258002 hasConcept C2779621917 @default.
• W3040258002 hasConcept C2779999465 @default.
• W3040258002 hasConcept C501734568 @default.
• W3040258002 hasConcept C54355233 @default.
• W3040258002 hasConcept C71924100 @default.
• W3040258002 hasConcept C75563809 @default.
• W3040258002 hasConcept C86803240 @default.
• W3040258002 hasConceptScore W3040258002C104317684 @default.
• W3040258002 hasConceptScore W3040258002C142669718 @default.
• W3040258002 hasConceptScore W3040258002C142724271 @default.
• W3040258002 hasConceptScore W3040258002C1491633281 @default.
• W3040258002 hasConceptScore W3040258002C153911025 @default.
• W3040258002 hasConceptScore W3040258002C20563397 @default.
• W3040258002 hasConceptScore W3040258002C2775934546 @default.
• W3040258002 hasConceptScore W3040258002C2777300911 @default.
• W3040258002 hasConceptScore W3040258002C2779621917 @default.
• W3040258002 hasConceptScore W3040258002C2779999465 @default.
• W3040258002 hasConceptScore W3040258002C501734568 @default.
• W3040258002 hasConceptScore W3040258002C54355233 @default.
• W3040258002 hasConceptScore W3040258002C71924100 @default.
• W3040258002 hasConceptScore W3040258002C75563809 @default.
• W3040258002 hasConceptScore W3040258002C86803240 @default.
• W3040258002 hasFunder F4320308306 @default.
• W3040258002 hasFunder F4320315367 @default.
• W3040258002 hasIssue "8" @default.
• W3040258002 hasLocation W30402580021 @default.
• W3040258002 hasLocation W30402580022 @default.
• W3040258002 hasLocation W30402580023 @default.
• W3040258002 hasOpenAccess W3040258002 @default.
• W3040258002 hasPrimaryLocation W30402580021 @default.
• W3040258002 hasRelatedWork W1488029177 @default.
• W3040258002 hasRelatedWork W2018386310 @default.
• W3040258002 hasRelatedWork W2051000480 @default.
• W3040258002 hasRelatedWork W2061213995 @default.

• next