FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1977892743> ?p ?o ?g. }

• W1977892743 endingPage "835" @default.
• W1977892743 startingPage "830" @default.
• W1977892743 abstract "X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. Here we report long-term follow-up of the second family (XLCM-2), for which a DMD mutation was never found. Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease. The broad phenotype in this family included dilated and hypertrophic cardiomyopathy, cardiac pre-excitation, skeletal myopathy with high serum creatine kinase, cognitive impairment (in males), and a pigmentary retinopathy in affected females. Cardiac biopsy specimens showed extensive vacuolar changes in an affected adult male. Remarkably, the skeletal muscle biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. We conclude that XLCM may be the presenting sign of Danon disease and, in the presence of a familial history of HCM, pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy should prompt LAMP-2 clinical testing. Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease." @default.
• W1977892743 created "2016-06-24" @default.
• W1977892743 creator A5001852840 @default.
• W1977892743 creator A5003283507 @default.
• W1977892743 creator A5005258697 @default.
• W1977892743 creator A5008800476 @default.
• W1977892743 creator A5012854074 @default.
• W1977892743 creator A5034342644 @default.
• W1977892743 creator A5035788875 @default.
• W1977892743 creator A5036171311 @default.
• W1977892743 creator A5042834490 @default.
• W1977892743 creator A5050657317 @default.
• W1977892743 creator A5050909720 @default.
• W1977892743 creator A5057739019 @default.
• W1977892743 creator A5062296610 @default.
• W1977892743 creator A5066041440 @default.
• W1977892743 creator A5067654253 @default.
• W1977892743 creator A5083196726 @default.
• W1977892743 creator A5087221814 @default.
• W1977892743 creator A5090814913 @default.
• W1977892743 date "2007-09-26" @default.
• W1977892743 modified "2023-10-17" @default.
• W1977892743 title "Danon disease presenting with dilated cardiomyopathy and a complex phenotype" @default.
• W1977892743 cites W134049555 @default.
• W1977892743 cites W1993758498 @default.
• W1977892743 cites W2017839586 @default.
• W1977892743 cites W2059431961 @default.
• W1977892743 cites W2069159476 @default.
• W1977892743 cites W2083664120 @default.
• W1977892743 cites W2092678405 @default.
• W1977892743 cites W2094763401 @default.
• W1977892743 cites W2102724875 @default.
• W1977892743 cites W2104611938 @default.
• W1977892743 cites W2109716633 @default.
• W1977892743 cites W2118418827 @default.
• W1977892743 cites W2129302503 @default.
• W1977892743 cites W2138003428 @default.
• W1977892743 cites W2144185527 @default.
• W1977892743 cites W2161501475 @default.
• W1977892743 cites W2161761622 @default.
• W1977892743 cites W2163213261 @default.
• W1977892743 cites W2257565180 @default.
• W1977892743 doi "https://doi.org/10.1007/s10038-007-0184-8" @default.
• W1977892743 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17899313" @default.
• W1977892743 hasPublicationYear "2007" @default.
• W1977892743 type Work @default.
• W1977892743 sameAs 1977892743 @default.
• W1977892743 citedByCount "60" @default.
• W1977892743 countsByYear W19778927432012 @default.
• W1977892743 countsByYear W19778927432013 @default.
• W1977892743 countsByYear W19778927432014 @default.
• W1977892743 countsByYear W19778927432015 @default.
• W1977892743 countsByYear W19778927432016 @default.
• W1977892743 countsByYear W19778927432017 @default.
• W1977892743 countsByYear W19778927432018 @default.
• W1977892743 countsByYear W19778927432019 @default.
• W1977892743 countsByYear W19778927432020 @default.
• W1977892743 countsByYear W19778927432021 @default.
• W1977892743 countsByYear W19778927432022 @default.
• W1977892743 countsByYear W19778927432023 @default.
• W1977892743 crossrefType "journal-article" @default.
• W1977892743 hasAuthorship W1977892743A5001852840 @default.
• W1977892743 hasAuthorship W1977892743A5003283507 @default.
• W1977892743 hasAuthorship W1977892743A5005258697 @default.
• W1977892743 hasAuthorship W1977892743A5008800476 @default.
• W1977892743 hasAuthorship W1977892743A5012854074 @default.
• W1977892743 hasAuthorship W1977892743A5034342644 @default.
• W1977892743 hasAuthorship W1977892743A5035788875 @default.
• W1977892743 hasAuthorship W1977892743A5036171311 @default.
• W1977892743 hasAuthorship W1977892743A5042834490 @default.
• W1977892743 hasAuthorship W1977892743A5050657317 @default.
• W1977892743 hasAuthorship W1977892743A5050909720 @default.
• W1977892743 hasAuthorship W1977892743A5057739019 @default.
• W1977892743 hasAuthorship W1977892743A5062296610 @default.
• W1977892743 hasAuthorship W1977892743A5066041440 @default.
• W1977892743 hasAuthorship W1977892743A5067654253 @default.
• W1977892743 hasAuthorship W1977892743A5083196726 @default.
• W1977892743 hasAuthorship W1977892743A5087221814 @default.
• W1977892743 hasAuthorship W1977892743A5090814913 @default.
• W1977892743 hasBestOaLocation W19778927431 @default.
• W1977892743 hasConcept C126322002 @default.
• W1977892743 hasConcept C134018914 @default.
• W1977892743 hasConcept C142724271 @default.
• W1977892743 hasConcept C2775934546 @default.
• W1977892743 hasConcept C2776383484 @default.
• W1977892743 hasConcept C2777300911 @default.
• W1977892743 hasConcept C2778198053 @default.
• W1977892743 hasConcept C2778797674 @default.
• W1977892743 hasConcept C2779999465 @default.
• W1977892743 hasConcept C2780185194 @default.
• W1977892743 hasConcept C71924100 @default.
• W1977892743 hasConceptScore W1977892743C126322002 @default.
• W1977892743 hasConceptScore W1977892743C134018914 @default.
• W1977892743 hasConceptScore W1977892743C142724271 @default.
• W1977892743 hasConceptScore W1977892743C2775934546 @default.
• W1977892743 hasConceptScore W1977892743C2776383484 @default.
• W1977892743 hasConceptScore W1977892743C2777300911 @default.
• W1977892743 hasConceptScore W1977892743C2778198053 @default.

• next