Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068101373> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2068101373 endingPage "114" @default.
- W2068101373 startingPage "111" @default.
- W2068101373 abstract "Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden and some parts of Finland. The finding of rimmed vacuoles in muscle biopsies from patients with moderate and severe symptoms constitutes one similarity with hereditary inclusion body myopathy (HIBM) sparing the quadriceps as described by Argov and Yarom [Argov Z, Yarom R. J Neurol Sci 1984;64:33–43]. The question has been raised whether some of the different forms of distal myopathy might be allelic. In previous reports the gene defects for HIBM and autosomal recessive hereditary distal myopathy with rimmed vacuoles (DMRV) have been mapped to chromosome 9p1-q1. The Finnish tibial muscular dystrophy (TMD) that displays similar histopathological findings has recently been linked to chromosome 2q. We have investigated the regions of interest with dispersed microsatellite markers in four well-described pedigrees, and this study now excludes the regions on chromosome 9p1-q1 and 2q from linkage to WDM both by haplotype analysis and linkage analysis with the MLINK program. WDM, showing morphological similarities with HIBM, is clearly separated from the disorders mapped to chromosomes 9 and 2 on clinical and genetical grounds." @default.
- W2068101373 created "2016-06-24" @default.
- W2068101373 creator A5000065959 @default.
- W2068101373 creator A5007423591 @default.
- W2068101373 creator A5071113242 @default.
- W2068101373 creator A5080288555 @default.
- W2068101373 date "1998-04-01" @default.
- W2068101373 modified "2023-10-18" @default.
- W2068101373 title "Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies" @default.
- W2068101373 cites W120968873 @default.
- W2068101373 cites W1554390784 @default.
- W2068101373 cites W2008788375 @default.
- W2068101373 cites W2017428806 @default.
- W2068101373 cites W2028396493 @default.
- W2068101373 cites W2074002170 @default.
- W2068101373 cites W2074056163 @default.
- W2068101373 cites W2078042911 @default.
- W2068101373 cites W2082500432 @default.
- W2068101373 cites W2086750775 @default.
- W2068101373 cites W2100788661 @default.
- W2068101373 cites W2120481355 @default.
- W2068101373 cites W2136243484 @default.
- W2068101373 doi "https://doi.org/10.1016/s0960-8966(98)00007-8" @default.
- W2068101373 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9608564" @default.
- W2068101373 hasPublicationYear "1998" @default.
- W2068101373 type Work @default.
- W2068101373 sameAs 2068101373 @default.
- W2068101373 citedByCount "16" @default.
- W2068101373 countsByYear W20681013732013 @default.
- W2068101373 countsByYear W20681013732019 @default.
- W2068101373 countsByYear W20681013732022 @default.
- W2068101373 crossrefType "journal-article" @default.
- W2068101373 hasAuthorship W2068101373A5000065959 @default.
- W2068101373 hasAuthorship W2068101373A5007423591 @default.
- W2068101373 hasAuthorship W2068101373A5071113242 @default.
- W2068101373 hasAuthorship W2068101373A5080288555 @default.
- W2068101373 hasConcept C104317684 @default.
- W2068101373 hasConcept C126322002 @default.
- W2068101373 hasConcept C142724271 @default.
- W2068101373 hasConcept C142870003 @default.
- W2068101373 hasConcept C22593422 @default.
- W2068101373 hasConcept C2777300911 @default.
- W2068101373 hasConcept C2779030066 @default.
- W2068101373 hasConcept C2909765735 @default.
- W2068101373 hasConcept C30481170 @default.
- W2068101373 hasConcept C54355233 @default.
- W2068101373 hasConcept C71924100 @default.
- W2068101373 hasConcept C86803240 @default.
- W2068101373 hasConceptScore W2068101373C104317684 @default.
- W2068101373 hasConceptScore W2068101373C126322002 @default.
- W2068101373 hasConceptScore W2068101373C142724271 @default.
- W2068101373 hasConceptScore W2068101373C142870003 @default.
- W2068101373 hasConceptScore W2068101373C22593422 @default.
- W2068101373 hasConceptScore W2068101373C2777300911 @default.
- W2068101373 hasConceptScore W2068101373C2779030066 @default.
- W2068101373 hasConceptScore W2068101373C2909765735 @default.
- W2068101373 hasConceptScore W2068101373C30481170 @default.
- W2068101373 hasConceptScore W2068101373C54355233 @default.
- W2068101373 hasConceptScore W2068101373C71924100 @default.
- W2068101373 hasConceptScore W2068101373C86803240 @default.
- W2068101373 hasIssue "2" @default.
- W2068101373 hasLocation W20681013731 @default.
- W2068101373 hasLocation W20681013732 @default.
- W2068101373 hasOpenAccess W2068101373 @default.
- W2068101373 hasPrimaryLocation W20681013731 @default.
- W2068101373 hasRelatedWork W1601743584 @default.
- W2068101373 hasRelatedWork W1981961183 @default.
- W2068101373 hasRelatedWork W2002560522 @default.
- W2068101373 hasRelatedWork W2027270584 @default.
- W2068101373 hasRelatedWork W2071838879 @default.
- W2068101373 hasRelatedWork W2124799131 @default.
- W2068101373 hasRelatedWork W2151503168 @default.
- W2068101373 hasRelatedWork W2158372965 @default.
- W2068101373 hasRelatedWork W237521199 @default.
- W2068101373 hasRelatedWork W4251578784 @default.
- W2068101373 hasVolume "8" @default.
- W2068101373 isParatext "false" @default.
- W2068101373 isRetracted "false" @default.
- W2068101373 magId "2068101373" @default.
- W2068101373 workType "article" @default.