Matches in SemOpenAlex for { <https://semopenalex.org/work/W2316052242> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2316052242 abstract "Objective: In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. Material and Method: We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and biopsy materials were collected from five different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood samples of patients and genetic tests (mutation analyses for gamma sarcoglycan gene and deletion-duplication analyses for all 4 sarcoglycan genes) were performed. Results: The mean age of the patients was 7.6 years (2 -21 years). Only one case (5%) was older than 14 years. The mean CPK level was 10311 U/L (1311 – 35000 U∕L). There were 4 siblings in these series. Expression defects of gamma sarcoglycan staining were determined in (15 males, and 5 females) all patients with muscle biopsy specimens. But only in 9 of them, disease-causing defects could be determined with genetic analyses. Conclusion: The present study has demonstrated that both examination of muscle biopsy specimens and DNA analysis remain important methods in the differential diagnosis of muscular dystrophies. Because dystrophinopathies and sarcoglycanopathies have similar clinical manifestation." @default.
- W2316052242 created "2016-06-24" @default.
- W2316052242 creator A5023296472 @default.
- W2316052242 creator A5035001989 @default.
- W2316052242 creator A5050052877 @default.
- W2316052242 date "2014-01-01" @default.
- W2316052242 modified "2023-09-23" @default.
- W2316052242 title "Histopathological and Genetic Features of Patients with Limb Girdle Muscular Dystrophy Type 2C Kavşak Tipi Müsküler Distrofi Tip 2 c Hastalarinin Histopatolojik ve Genetik Özellikleri" @default.
- W2316052242 cites W1567088072 @default.
- W2316052242 cites W1914792361 @default.
- W2316052242 cites W1968839934 @default.
- W2316052242 cites W2019198523 @default.
- W2316052242 cites W2026962372 @default.
- W2316052242 cites W2029956592 @default.
- W2316052242 cites W2039742310 @default.
- W2316052242 cites W2044406209 @default.
- W2316052242 cites W2047400703 @default.
- W2316052242 cites W2073783399 @default.
- W2316052242 cites W2088789415 @default.
- W2316052242 cites W2092092932 @default.
- W2316052242 cites W2100652705 @default.
- W2316052242 cites W2114523921 @default.
- W2316052242 cites W2315093340 @default.
- W2316052242 cites W2334924661 @default.
- W2316052242 cites W34078819 @default.
- W2316052242 hasPublicationYear "2014" @default.
- W2316052242 type Work @default.
- W2316052242 sameAs 2316052242 @default.
- W2316052242 citedByCount "0" @default.
- W2316052242 crossrefType "journal-article" @default.
- W2316052242 hasAuthorship W2316052242A5023296472 @default.
- W2316052242 hasAuthorship W2316052242A5035001989 @default.
- W2316052242 hasAuthorship W2316052242A5050052877 @default.
- W2316052242 hasConcept C126322002 @default.
- W2316052242 hasConcept C142724271 @default.
- W2316052242 hasConcept C2775934546 @default.
- W2316052242 hasConcept C2779030066 @default.
- W2316052242 hasConcept C2779999465 @default.
- W2316052242 hasConcept C71924100 @default.
- W2316052242 hasConceptScore W2316052242C126322002 @default.
- W2316052242 hasConceptScore W2316052242C142724271 @default.
- W2316052242 hasConceptScore W2316052242C2775934546 @default.
- W2316052242 hasConceptScore W2316052242C2779030066 @default.
- W2316052242 hasConceptScore W2316052242C2779999465 @default.
- W2316052242 hasConceptScore W2316052242C71924100 @default.
- W2316052242 hasLocation W23160522421 @default.
- W2316052242 hasOpenAccess W2316052242 @default.
- W2316052242 hasPrimaryLocation W23160522421 @default.
- W2316052242 hasRelatedWork W1914792361 @default.
- W2316052242 hasRelatedWork W1981513723 @default.
- W2316052242 hasRelatedWork W1987403718 @default.
- W2316052242 hasRelatedWork W1998128603 @default.
- W2316052242 hasRelatedWork W2053817300 @default.
- W2316052242 hasRelatedWork W2074311082 @default.
- W2316052242 hasRelatedWork W2099024013 @default.
- W2316052242 hasRelatedWork W2113642415 @default.
- W2316052242 hasRelatedWork W2331526178 @default.
- W2316052242 hasRelatedWork W2374440436 @default.
- W2316052242 hasRelatedWork W2374854606 @default.
- W2316052242 hasRelatedWork W2416462530 @default.
- W2316052242 hasRelatedWork W2516311653 @default.
- W2316052242 hasRelatedWork W2539996955 @default.
- W2316052242 hasRelatedWork W2599673053 @default.
- W2316052242 hasRelatedWork W2755268893 @default.
- W2316052242 hasRelatedWork W3025093438 @default.
- W2316052242 hasRelatedWork W3032311304 @default.
- W2316052242 hasRelatedWork W3085962417 @default.
- W2316052242 hasRelatedWork W3201395747 @default.
- W2316052242 isParatext "false" @default.
- W2316052242 isRetracted "false" @default.
- W2316052242 magId "2316052242" @default.
- W2316052242 workType "article" @default.