FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2073322302> ?p ?o ?g. }

• W2073322302 endingPage "1694" @default.
• W2073322302 startingPage "1691" @default.
• W2073322302 abstract "We describe a 5-year-old girl with marked hypotonia, poor feeding and reduced facial expression since birth. Congenital myopathy was suspected; muscle biopsy showed unspecific type 1 fibre predominance. The possibility of a ryanodine receptor 1 gene (RYR1)-associated myopathy was considered, but not further investigated. At the age of 2 years, she presented with exophthalmos. Brain MRI revealed optic pathway glioma. On clinical examination, she had six café-au-lait spots, thus fulfilling the diagnostic criteria for neurofibromatosis type 1 (NF1). The hypotonia was then attributed to NF1. At the age of 3 years, she developed scoliosis and had an unusually severe motor delay for NF1, as she was not able to walk independently. Dual pathology was suspected, and muscle MRI showed the typical pattern for RYR1-related myopathy. This was genetically confirmed with the discovery of two heterozygous mutations.NF1 is one of the most frequent genetic diseases in children. RYR1-related myopathy is one of the most frequent causes of congenital myopathy. The combination of these two pathologies has not yet been described. In cases of unusual presentations or clinical course, the possibility of genetic double trouble should be considered." @default.
• W2073322302 created "2016-06-24" @default.
• W2073322302 creator A5011333547 @default.
• W2073322302 creator A5013012959 @default.
• W2073322302 creator A5016511702 @default.
• W2073322302 creator A5066613553 @default.
• W2073322302 creator A5068002114 @default.
• W2073322302 creator A5069640195 @default.
• W2073322302 creator A5080502901 @default.
• W2073322302 creator A5081827829 @default.
• W2073322302 date "2014-04-08" @default.
• W2073322302 modified "2023-10-16" @default.
• W2073322302 title "Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy" @default.
• W2073322302 cites W1969296714 @default.
• W2073322302 cites W1976336242 @default.
• W2073322302 cites W1997887695 @default.
• W2073322302 cites W1999583033 @default.
• W2073322302 cites W2015093433 @default.
• W2073322302 cites W2016432280 @default.
• W2073322302 cites W2025176449 @default.
• W2073322302 cites W2049829089 @default.
• W2073322302 cites W2074084779 @default.
• W2073322302 cites W2085699375 @default.
• W2073322302 cites W2087817221 @default.
• W2073322302 cites W2114295328 @default.
• W2073322302 cites W2170104850 @default.
• W2073322302 cites W4253368897 @default.
• W2073322302 doi "https://doi.org/10.1007/s00431-014-2314-6" @default.
• W2073322302 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24706162" @default.
• W2073322302 hasPublicationYear "2014" @default.
• W2073322302 type Work @default.
• W2073322302 sameAs 2073322302 @default.
• W2073322302 citedByCount "8" @default.
• W2073322302 countsByYear W20733223022015 @default.
• W2073322302 countsByYear W20733223022018 @default.
• W2073322302 countsByYear W20733223022020 @default.
• W2073322302 countsByYear W20733223022021 @default.
• W2073322302 countsByYear W20733223022022 @default.
• W2073322302 countsByYear W20733223022023 @default.
• W2073322302 crossrefType "journal-article" @default.
• W2073322302 hasAuthorship W2073322302A5011333547 @default.
• W2073322302 hasAuthorship W2073322302A5013012959 @default.
• W2073322302 hasAuthorship W2073322302A5016511702 @default.
• W2073322302 hasAuthorship W2073322302A5066613553 @default.
• W2073322302 hasAuthorship W2073322302A5068002114 @default.
• W2073322302 hasAuthorship W2073322302A5069640195 @default.
• W2073322302 hasAuthorship W2073322302A5080502901 @default.
• W2073322302 hasAuthorship W2073322302A5081827829 @default.
• W2073322302 hasBestOaLocation W20733223022 @default.
• W2073322302 hasConcept C113217602 @default.
• W2073322302 hasConcept C126322002 @default.
• W2073322302 hasConcept C141071460 @default.
• W2073322302 hasConcept C142724271 @default.
• W2073322302 hasConcept C170493617 @default.
• W2073322302 hasConcept C187212893 @default.
• W2073322302 hasConcept C2775934546 @default.
• W2073322302 hasConcept C2776333580 @default.
• W2073322302 hasConcept C2777300911 @default.
• W2073322302 hasConcept C2777699224 @default.
• W2073322302 hasConcept C2778984943 @default.
• W2073322302 hasConcept C2779438767 @default.
• W2073322302 hasConcept C2779546488 @default.
• W2073322302 hasConcept C2779999465 @default.
• W2073322302 hasConcept C2780955175 @default.
• W2073322302 hasConcept C71924100 @default.
• W2073322302 hasConceptScore W2073322302C113217602 @default.
• W2073322302 hasConceptScore W2073322302C126322002 @default.
• W2073322302 hasConceptScore W2073322302C141071460 @default.
• W2073322302 hasConceptScore W2073322302C142724271 @default.
• W2073322302 hasConceptScore W2073322302C170493617 @default.
• W2073322302 hasConceptScore W2073322302C187212893 @default.
• W2073322302 hasConceptScore W2073322302C2775934546 @default.
• W2073322302 hasConceptScore W2073322302C2776333580 @default.
• W2073322302 hasConceptScore W2073322302C2777300911 @default.
• W2073322302 hasConceptScore W2073322302C2777699224 @default.
• W2073322302 hasConceptScore W2073322302C2778984943 @default.
• W2073322302 hasConceptScore W2073322302C2779438767 @default.
• W2073322302 hasConceptScore W2073322302C2779546488 @default.
• W2073322302 hasConceptScore W2073322302C2779999465 @default.
• W2073322302 hasConceptScore W2073322302C2780955175 @default.
• W2073322302 hasConceptScore W2073322302C71924100 @default.
• W2073322302 hasIssue "12" @default.
• W2073322302 hasLocation W20733223021 @default.
• W2073322302 hasLocation W20733223022 @default.
• W2073322302 hasLocation W20733223023 @default.
• W2073322302 hasLocation W20733223024 @default.
• W2073322302 hasOpenAccess W2073322302 @default.
• W2073322302 hasPrimaryLocation W20733223021 @default.
• W2073322302 hasRelatedWork W1969067081 @default.
• W2073322302 hasRelatedWork W201588366 @default.
• W2073322302 hasRelatedWork W2073322302 @default.
• W2073322302 hasRelatedWork W2094663915 @default.
• W2073322302 hasRelatedWork W2160249058 @default.
• W2073322302 hasRelatedWork W2441583022 @default.
• W2073322302 hasRelatedWork W2598719676 @default.
• W2073322302 hasRelatedWork W2756206675 @default.
• W2073322302 hasRelatedWork W2910653055 @default.
• W2073322302 hasRelatedWork W3201163503 @default.

• next