FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2783197689> ?p ?o ?g. }

• W2783197689 endingPage "58" @default.
• W2783197689 startingPage "58" @default.
• W2783197689 abstract "This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM).Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed.Seven different mutations were identified, including two novel mutations: c.5915A>T and c.12250C>T. All of the patients presented at infancy with proximal dominant weakness and delayed motor milestones. Other clinical findings were scoliosis in three patients, winged scapula in two, hip dislocation in one, and pectus excavatum in one. Ophthalmoplegia was observed in one patient with a novel recessive mutation. Two of three muscle specimens revealed a myopathic pattern with core.We have identified a novel compound heterozygous RYR1 mutation and demonstrated clinical and pathologic findings in five Korean patients with RYR1-related CM." @default.
• W2783197689 created "2018-01-26" @default.
• W2783197689 creator A5024616097 @default.
• W2783197689 creator A5033550557 @default.
• W2783197689 creator A5034562589 @default.
• W2783197689 creator A5038213623 @default.
• W2783197689 creator A5059206218 @default.
• W2783197689 creator A5065963667 @default.
• W2783197689 creator A5080238951 @default.
• W2783197689 date "2018-01-01" @default.
• W2783197689 modified "2023-09-28" @default.
• W2783197689 title "Clinical and Pathologic Findings of Korean Patients with <i>RYR1</i>-Related Congenital Myopathy" @default.
• W2783197689 cites W1817488675 @default.
• W2783197689 cites W1884824544 @default.
• W2783197689 cites W1972624141 @default.
• W2783197689 cites W1975023384 @default.
• W2783197689 cites W1975979276 @default.
• W2783197689 cites W2015093433 @default.
• W2783197689 cites W2020685420 @default.
• W2783197689 cites W2050057821 @default.
• W2783197689 cites W2051978340 @default.
• W2783197689 cites W2067608193 @default.
• W2783197689 cites W2084703547 @default.
• W2783197689 cites W2112906555 @default.
• W2783197689 cites W2114295328 @default.
• W2783197689 cites W2131909933 @default.
• W2783197689 cites W2143642729 @default.
• W2783197689 cites W2146986254 @default.
• W2783197689 cites W2152064075 @default.
• W2783197689 cites W2154169649 @default.
• W2783197689 cites W2165824710 @default.
• W2783197689 cites W2167038632 @default.
• W2783197689 cites W2318074160 @default.
• W2783197689 cites W2475950948 @default.
• W2783197689 cites W2484439207 @default.
• W2783197689 cites W2915684844 @default.
• W2783197689 cites W4235541210 @default.
• W2783197689 doi "https://doi.org/10.3988/jcn.2018.14.1.58" @default.
• W2783197689 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5765257" @default.
• W2783197689 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29629541" @default.
• W2783197689 hasPublicationYear "2018" @default.
• W2783197689 type Work @default.
• W2783197689 sameAs 2783197689 @default.
• W2783197689 citedByCount "4" @default.
• W2783197689 countsByYear W27831976892018 @default.
• W2783197689 countsByYear W27831976892020 @default.
• W2783197689 countsByYear W27831976892022 @default.
• W2783197689 crossrefType "journal-article" @default.
• W2783197689 hasAuthorship W2783197689A5024616097 @default.
• W2783197689 hasAuthorship W2783197689A5033550557 @default.
• W2783197689 hasAuthorship W2783197689A5034562589 @default.
• W2783197689 hasAuthorship W2783197689A5038213623 @default.
• W2783197689 hasAuthorship W2783197689A5059206218 @default.
• W2783197689 hasAuthorship W2783197689A5065963667 @default.
• W2783197689 hasAuthorship W2783197689A5080238951 @default.
• W2783197689 hasBestOaLocation W27831976891 @default.
• W2783197689 hasConcept C104317684 @default.
• W2783197689 hasConcept C113217602 @default.
• W2783197689 hasConcept C12125453 @default.
• W2783197689 hasConcept C126322002 @default.
• W2783197689 hasConcept C141071460 @default.
• W2783197689 hasConcept C142724271 @default.
• W2783197689 hasConcept C2775934546 @default.
• W2783197689 hasConcept C2776333580 @default.
• W2783197689 hasConcept C2776418732 @default.
• W2783197689 hasConcept C2777300911 @default.
• W2783197689 hasConcept C2777699224 @default.
• W2783197689 hasConcept C2779438767 @default.
• W2783197689 hasConcept C2779999465 @default.
• W2783197689 hasConcept C2780247198 @default.
• W2783197689 hasConcept C501734568 @default.
• W2783197689 hasConcept C519063684 @default.
• W2783197689 hasConcept C54355233 @default.
• W2783197689 hasConcept C71924100 @default.
• W2783197689 hasConcept C86803240 @default.
• W2783197689 hasConceptScore W2783197689C104317684 @default.
• W2783197689 hasConceptScore W2783197689C113217602 @default.
• W2783197689 hasConceptScore W2783197689C12125453 @default.
• W2783197689 hasConceptScore W2783197689C126322002 @default.
• W2783197689 hasConceptScore W2783197689C141071460 @default.
• W2783197689 hasConceptScore W2783197689C142724271 @default.
• W2783197689 hasConceptScore W2783197689C2775934546 @default.
• W2783197689 hasConceptScore W2783197689C2776333580 @default.
• W2783197689 hasConceptScore W2783197689C2776418732 @default.
• W2783197689 hasConceptScore W2783197689C2777300911 @default.
• W2783197689 hasConceptScore W2783197689C2777699224 @default.
• W2783197689 hasConceptScore W2783197689C2779438767 @default.
• W2783197689 hasConceptScore W2783197689C2779999465 @default.
• W2783197689 hasConceptScore W2783197689C2780247198 @default.
• W2783197689 hasConceptScore W2783197689C501734568 @default.
• W2783197689 hasConceptScore W2783197689C519063684 @default.
• W2783197689 hasConceptScore W2783197689C54355233 @default.
• W2783197689 hasConceptScore W2783197689C71924100 @default.
• W2783197689 hasConceptScore W2783197689C86803240 @default.
• W2783197689 hasIssue "1" @default.
• W2783197689 hasLocation W27831976891 @default.
• W2783197689 hasLocation W27831976892 @default.
• W2783197689 hasLocation W27831976893 @default.

• next