Matches in SemOpenAlex for { <https://semopenalex.org/work/W2049455597> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2049455597 abstract "Background Inclusion body myopathy with dementia and Paget disease of bone (IBMPFD) and myofibrillar myopathies (MFM) are genetically determined myopathies that can mimic sporadic Inclusion Body Myositis (sIBM), especially if the disease phenotype is incomplete (eg, skeletal muscle involvement only), if there is no family history (either because a mutation arises in the germ line or because the disease in the parents was unrecognised) and if the histological features overlap with those of sIBM. It is therefore possible that some sIBM cases may be caused by undetected mutations in the IBMPFD and MFM causative genes. Objective To investigate the association of sIBM with mutations in the IBMPFD and MFM causative genes. Methods Twenty-nine patients with sIBM (meeting diagnostic criteria for definite or probable sIBM according to Griggs) were screened for mutations in the following genes: valosin containing protein (VCP), Desmin (DES), Myotilin (MYOT) and Crystallin alpha-B (CRYAB). Results No pathogenic mutations in the VCP, DES, MYOT and CRYAB genes were detected in this group of sIBM patients. Conclusion This study provides evidence that common mutations in the VCP, DES, MYOT and CRYAB genes are not associated with the development of sIBM. Our results support current clinical practice in patients with sIBM, which are not usually screened for mutations in these genes, unless there the history or biopsy findings suggest a genetically determined myopathy." @default.
- W2049455597 created "2016-06-24" @default.
- W2049455597 creator A5009171206 @default.
- W2049455597 creator A5010861934 @default.
- W2049455597 creator A5042698472 @default.
- W2049455597 creator A5058917272 @default.
- W2049455597 creator A5068206792 @default.
- W2049455597 creator A5077451505 @default.
- W2049455597 creator A5086478235 @default.
- W2049455597 date "2012-02-09" @default.
- W2049455597 modified "2023-09-23" @default.
- W2049455597 title "097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM)" @default.
- W2049455597 doi "https://doi.org/10.1136/jnnp-2011-301993.139" @default.
- W2049455597 hasPublicationYear "2012" @default.
- W2049455597 type Work @default.
- W2049455597 sameAs 2049455597 @default.
- W2049455597 citedByCount "0" @default.
- W2049455597 crossrefType "journal-article" @default.
- W2049455597 hasAuthorship W2049455597A5009171206 @default.
- W2049455597 hasAuthorship W2049455597A5010861934 @default.
- W2049455597 hasAuthorship W2049455597A5042698472 @default.
- W2049455597 hasAuthorship W2049455597A5058917272 @default.
- W2049455597 hasAuthorship W2049455597A5068206792 @default.
- W2049455597 hasAuthorship W2049455597A5077451505 @default.
- W2049455597 hasAuthorship W2049455597A5086478235 @default.
- W2049455597 hasConcept C104317684 @default.
- W2049455597 hasConcept C127716648 @default.
- W2049455597 hasConcept C142724271 @default.
- W2049455597 hasConcept C147447768 @default.
- W2049455597 hasConcept C204232928 @default.
- W2049455597 hasConcept C2775934546 @default.
- W2049455597 hasConcept C2777300911 @default.
- W2049455597 hasConcept C2777327098 @default.
- W2049455597 hasConcept C2779072444 @default.
- W2049455597 hasConcept C2779999465 @default.
- W2049455597 hasConcept C2781232998 @default.
- W2049455597 hasConcept C501734568 @default.
- W2049455597 hasConcept C54355233 @default.
- W2049455597 hasConcept C71924100 @default.
- W2049455597 hasConcept C86803240 @default.
- W2049455597 hasConceptScore W2049455597C104317684 @default.
- W2049455597 hasConceptScore W2049455597C127716648 @default.
- W2049455597 hasConceptScore W2049455597C142724271 @default.
- W2049455597 hasConceptScore W2049455597C147447768 @default.
- W2049455597 hasConceptScore W2049455597C204232928 @default.
- W2049455597 hasConceptScore W2049455597C2775934546 @default.
- W2049455597 hasConceptScore W2049455597C2777300911 @default.
- W2049455597 hasConceptScore W2049455597C2777327098 @default.
- W2049455597 hasConceptScore W2049455597C2779072444 @default.
- W2049455597 hasConceptScore W2049455597C2779999465 @default.
- W2049455597 hasConceptScore W2049455597C2781232998 @default.
- W2049455597 hasConceptScore W2049455597C501734568 @default.
- W2049455597 hasConceptScore W2049455597C54355233 @default.
- W2049455597 hasConceptScore W2049455597C71924100 @default.
- W2049455597 hasConceptScore W2049455597C86803240 @default.
- W2049455597 hasLocation W20494555971 @default.
- W2049455597 hasOpenAccess W2049455597 @default.
- W2049455597 hasPrimaryLocation W20494555971 @default.
- W2049455597 hasRelatedWork W1972112857 @default.
- W2049455597 hasRelatedWork W1979114799 @default.
- W2049455597 hasRelatedWork W1980310661 @default.
- W2049455597 hasRelatedWork W2013006994 @default.
- W2049455597 hasRelatedWork W2019094344 @default.
- W2049455597 hasRelatedWork W2068105268 @default.
- W2049455597 hasRelatedWork W2089138655 @default.
- W2049455597 hasRelatedWork W2093971838 @default.
- W2049455597 hasRelatedWork W2109039639 @default.
- W2049455597 hasRelatedWork W2115437671 @default.
- W2049455597 hasRelatedWork W2116295762 @default.
- W2049455597 hasRelatedWork W2122204467 @default.
- W2049455597 hasRelatedWork W2126201693 @default.
- W2049455597 hasRelatedWork W2137761901 @default.
- W2049455597 hasRelatedWork W2139789822 @default.
- W2049455597 hasRelatedWork W2304941155 @default.
- W2049455597 hasRelatedWork W2995005353 @default.
- W2049455597 hasRelatedWork W3026394077 @default.
- W2049455597 hasRelatedWork W3099323226 @default.
- W2049455597 hasRelatedWork W3104422235 @default.
- W2049455597 isParatext "false" @default.
- W2049455597 isRetracted "false" @default.
- W2049455597 magId "2049455597" @default.
- W2049455597 workType "article" @default.