Matches in SemOpenAlex for { <https://semopenalex.org/work/W2419174985> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W2419174985 endingPage "6" @default.
- W2419174985 startingPage "73" @default.
- W2419174985 abstract "We report on two unrelated patients clinically presenting with late-onset progressive limb girdle weakness; cardiomyopathy was seen in one patient. Muscle biopsy revealed a necrotic myopathy with numerous rimmed vacuoles, ultrastructurally typical paired-helical filaments, and reduced immunohistochemical staining for alpha-dystroglycan. Quadriceps sparing hereditary inclusion body myopathy due to mutations in GNE gene, and OPMD due to PABPN1 mutations were excluded, genetically. We detected a homozygous mutation of the FKRP gene (826C>A) in both patients. Mutations of FKRP have been reported in congenital muscular dystrophies, LGMD2I, cardiomyopathy and hyperCKemia, but not in myopathies with vacuoles and paired-helical filaments. Therefore, our findings further extend the morphological variability of muscular dystrophies due to FKRP mutations." @default.
- W2419174985 created "2016-06-24" @default.
- W2419174985 creator A5005790498 @default.
- W2419174985 creator A5007740364 @default.
- W2419174985 creator A5009551717 @default.
- W2419174985 creator A5010638215 @default.
- W2419174985 creator A5016868945 @default.
- W2419174985 creator A5028251660 @default.
- W2419174985 creator A5029820107 @default.
- W2419174985 creator A5049053539 @default.
- W2419174985 creator A5058140723 @default.
- W2419174985 creator A5078314110 @default.
- W2419174985 creator A5091482401 @default.
- W2419174985 date "2006-10-01" @default.
- W2419174985 modified "2023-09-25" @default.
- W2419174985 title "LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments." @default.
- W2419174985 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18593008" @default.
- W2419174985 hasPublicationYear "2006" @default.
- W2419174985 type Work @default.
- W2419174985 sameAs 2419174985 @default.
- W2419174985 citedByCount "0" @default.
- W2419174985 crossrefType "journal-article" @default.
- W2419174985 hasAuthorship W2419174985A5005790498 @default.
- W2419174985 hasAuthorship W2419174985A5007740364 @default.
- W2419174985 hasAuthorship W2419174985A5009551717 @default.
- W2419174985 hasAuthorship W2419174985A5010638215 @default.
- W2419174985 hasAuthorship W2419174985A5016868945 @default.
- W2419174985 hasAuthorship W2419174985A5028251660 @default.
- W2419174985 hasAuthorship W2419174985A5029820107 @default.
- W2419174985 hasAuthorship W2419174985A5049053539 @default.
- W2419174985 hasAuthorship W2419174985A5058140723 @default.
- W2419174985 hasAuthorship W2419174985A5078314110 @default.
- W2419174985 hasAuthorship W2419174985A5091482401 @default.
- W2419174985 hasConcept C104317684 @default.
- W2419174985 hasConcept C126322002 @default.
- W2419174985 hasConcept C142724271 @default.
- W2419174985 hasConcept C2775934546 @default.
- W2419174985 hasConcept C2777300911 @default.
- W2419174985 hasConcept C2778198053 @default.
- W2419174985 hasConcept C2778649560 @default.
- W2419174985 hasConcept C2778797674 @default.
- W2419174985 hasConcept C2779030066 @default.
- W2419174985 hasConcept C2779999465 @default.
- W2419174985 hasConcept C501734568 @default.
- W2419174985 hasConcept C54355233 @default.
- W2419174985 hasConcept C71924100 @default.
- W2419174985 hasConcept C86803240 @default.
- W2419174985 hasConceptScore W2419174985C104317684 @default.
- W2419174985 hasConceptScore W2419174985C126322002 @default.
- W2419174985 hasConceptScore W2419174985C142724271 @default.
- W2419174985 hasConceptScore W2419174985C2775934546 @default.
- W2419174985 hasConceptScore W2419174985C2777300911 @default.
- W2419174985 hasConceptScore W2419174985C2778198053 @default.
- W2419174985 hasConceptScore W2419174985C2778649560 @default.
- W2419174985 hasConceptScore W2419174985C2778797674 @default.
- W2419174985 hasConceptScore W2419174985C2779030066 @default.
- W2419174985 hasConceptScore W2419174985C2779999465 @default.
- W2419174985 hasConceptScore W2419174985C501734568 @default.
- W2419174985 hasConceptScore W2419174985C54355233 @default.
- W2419174985 hasConceptScore W2419174985C71924100 @default.
- W2419174985 hasConceptScore W2419174985C86803240 @default.
- W2419174985 hasIssue "2" @default.
- W2419174985 hasLocation W24191749851 @default.
- W2419174985 hasOpenAccess W2419174985 @default.
- W2419174985 hasPrimaryLocation W24191749851 @default.
- W2419174985 hasRelatedWork W1490256361 @default.
- W2419174985 hasRelatedWork W1490669493 @default.
- W2419174985 hasRelatedWork W1964146857 @default.
- W2419174985 hasRelatedWork W1970103989 @default.
- W2419174985 hasRelatedWork W2001549913 @default.
- W2419174985 hasRelatedWork W2008563171 @default.
- W2419174985 hasRelatedWork W2029556689 @default.
- W2419174985 hasRelatedWork W2035659363 @default.
- W2419174985 hasRelatedWork W2081158425 @default.
- W2419174985 hasRelatedWork W2151173377 @default.
- W2419174985 hasRelatedWork W2368064901 @default.
- W2419174985 hasRelatedWork W2592956086 @default.
- W2419174985 hasRelatedWork W2763079818 @default.
- W2419174985 hasRelatedWork W2884072306 @default.
- W2419174985 hasRelatedWork W2898364105 @default.
- W2419174985 hasRelatedWork W2953778826 @default.
- W2419174985 hasRelatedWork W3119386393 @default.
- W2419174985 hasRelatedWork W3162945206 @default.
- W2419174985 hasRelatedWork W2526890046 @default.
- W2419174985 hasRelatedWork W2772246868 @default.
- W2419174985 hasVolume "25" @default.
- W2419174985 isParatext "false" @default.
- W2419174985 isRetracted "false" @default.
- W2419174985 magId "2419174985" @default.
- W2419174985 workType "article" @default.