FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2904207688> ?p ?o ?g. }

• W2904207688 endingPage "e523" @default.
• W2904207688 startingPage "e523" @default.
• W2904207688 abstract "Objective To determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations. Methods Patients with presumed LGMD and unrevealing genetic testing were selected based on a few clinico-pathologic features and tested for anti-HMGCR autoantibodies (n = 11). These clinico-pathologic features are peak creatine kinase (CK) greater than 1,000 IU/L and at least 3 of the following features: (1) limb-girdle pattern of weakness, (2) selective involvement of posterior thigh on clinical examination or muscle imaging, (3) dystrophic changes on muscle biopsy, and (4) no family history of muscular dystrophy. Results Six patients tested positive for anti-HMGCR autoantibodies. In 4, there was a presymptomatic phase, lasting as long as 10 years, characterized by elevated CK levels without weakness. Muscle biopsies revealed variable degrees of a dystrophic pathology without prominent inflammation. In an independent cohort of patients with anti-HMGCR myopathy, 17 of 51 (∼33%) patients were initially presumed to have a form of LGMD based on clinico-pathologic features but were ultimately found to have anti-HMGCR myopathy. Most of these patients responded favorably to immunomodulatory therapies, evidenced by reduction of CK levels and improved strength. Conclusions Anti-HMGCR myopathy can resemble LGMD. Diagnosis of patients with a LGMD-like presentation of anti-HMGCR myopathy is critical because these patients may respond favorably to immunotherapy, especially those with shorter disease duration." @default.
• W2904207688 created "2018-12-22" @default.
• W2904207688 creator A5016904295 @default.
• W2904207688 creator A5016992683 @default.
• W2904207688 creator A5018913953 @default.
• W2904207688 creator A5019916188 @default.
• W2904207688 creator A5021142065 @default.
• W2904207688 creator A5027640760 @default.
• W2904207688 creator A5027654969 @default.
• W2904207688 creator A5031647104 @default.
• W2904207688 creator A5035350944 @default.
• W2904207688 creator A5041820487 @default.
• W2904207688 creator A5044599826 @default.
• W2904207688 creator A5050689401 @default.
• W2904207688 creator A5057324753 @default.
• W2904207688 creator A5059907230 @default.
• W2904207688 creator A5068073380 @default.
• W2904207688 creator A5070953264 @default.
• W2904207688 creator A5076681315 @default.
• W2904207688 creator A5081551339 @default.
• W2904207688 creator A5084391793 @default.
• W2904207688 creator A5084707615 @default.
• W2904207688 date "2018-12-12" @default.
• W2904207688 modified "2023-10-13" @default.
• W2904207688 title "Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy" @default.
• W2904207688 cites W1919209098 @default.
• W2904207688 cites W1964427420 @default.
• W2904207688 cites W1966680084 @default.
• W2904207688 cites W1971481820 @default.
• W2904207688 cites W2036617963 @default.
• W2904207688 cites W2051503616 @default.
• W2904207688 cites W2059977675 @default.
• W2904207688 cites W2100192039 @default.
• W2904207688 cites W2130766048 @default.
• W2904207688 cites W2133129785 @default.
• W2904207688 cites W2301243053 @default.
• W2904207688 cites W2303895490 @default.
• W2904207688 cites W2333620852 @default.
• W2904207688 cites W2517075060 @default.
• W2904207688 cites W2523293821 @default.
• W2904207688 cites W2548603480 @default.
• W2904207688 cites W2578991814 @default.
• W2904207688 cites W2701327954 @default.
• W2904207688 cites W2741842157 @default.
• W2904207688 cites W2743705839 @default.
• W2904207688 cites W2755580732 @default.
• W2904207688 cites W2765714778 @default.
• W2904207688 cites W2781217146 @default.
• W2904207688 cites W4238975453 @default.
• W2904207688 doi "https://doi.org/10.1212/nxi.0000000000000523" @default.
• W2904207688 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6292490" @default.
• W2904207688 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30588482" @default.
• W2904207688 hasPublicationYear "2018" @default.
• W2904207688 type Work @default.
• W2904207688 sameAs 2904207688 @default.
• W2904207688 citedByCount "63" @default.
• W2904207688 countsByYear W29042076882019 @default.
• W2904207688 countsByYear W29042076882020 @default.
• W2904207688 countsByYear W29042076882021 @default.
• W2904207688 countsByYear W29042076882022 @default.
• W2904207688 countsByYear W29042076882023 @default.
• W2904207688 crossrefType "journal-article" @default.
• W2904207688 hasAuthorship W2904207688A5016904295 @default.
• W2904207688 hasAuthorship W2904207688A5016992683 @default.
• W2904207688 hasAuthorship W2904207688A5018913953 @default.
• W2904207688 hasAuthorship W2904207688A5019916188 @default.
• W2904207688 hasAuthorship W2904207688A5021142065 @default.
• W2904207688 hasAuthorship W2904207688A5027640760 @default.
• W2904207688 hasAuthorship W2904207688A5027654969 @default.
• W2904207688 hasAuthorship W2904207688A5031647104 @default.
• W2904207688 hasAuthorship W2904207688A5035350944 @default.
• W2904207688 hasAuthorship W2904207688A5041820487 @default.
• W2904207688 hasAuthorship W2904207688A5044599826 @default.
• W2904207688 hasAuthorship W2904207688A5050689401 @default.
• W2904207688 hasAuthorship W2904207688A5057324753 @default.
• W2904207688 hasAuthorship W2904207688A5059907230 @default.
• W2904207688 hasAuthorship W2904207688A5068073380 @default.
• W2904207688 hasAuthorship W2904207688A5070953264 @default.
• W2904207688 hasAuthorship W2904207688A5076681315 @default.
• W2904207688 hasAuthorship W2904207688A5081551339 @default.
• W2904207688 hasAuthorship W2904207688A5084391793 @default.
• W2904207688 hasAuthorship W2904207688A5084707615 @default.
• W2904207688 hasBestOaLocation W29042076881 @default.
• W2904207688 hasConcept C104317684 @default.
• W2904207688 hasConcept C126322002 @default.
• W2904207688 hasConcept C141071460 @default.
• W2904207688 hasConcept C142724271 @default.
• W2904207688 hasConcept C2775934546 @default.
• W2904207688 hasConcept C2776418732 @default.
• W2904207688 hasConcept C2777300911 @default.
• W2904207688 hasConcept C2778649560 @default.
• W2904207688 hasConcept C2779030066 @default.
• W2904207688 hasConcept C2779999465 @default.
• W2904207688 hasConcept C2780181341 @default.
• W2904207688 hasConcept C2780247198 @default.
• W2904207688 hasConcept C2909745897 @default.
• W2904207688 hasConcept C36880943 @default.
• W2904207688 hasConcept C501734568 @default.

• next