Matches in SemOpenAlex for { <https://semopenalex.org/work/W4243977051> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W4243977051 endingPage "1339" @default.
- W4243977051 startingPage "1339" @default.
- W4243977051 abstract "We have identified large-scale deletions in muscle mitochondrial DNA (mtDNA) in seven of seven patients with Kearns-Sayre syndrome (KSS). We found no detectable deletions in the mtDNA of ten non-KSS patients with other mitochondrial myopathies or encephalomyopathies, or three normal controls. The deletions ranged in size from 2.0 to 7.0 kb, and did not localize to any single region of the mitochondrial genome. The proportion of mutated genomes in each KSS patient ranged from 45% to 75% of total mtDNA. There was no correlation between the size or site of the deletion, biochemical abnormality of mitochondrial enzymes, or clinical severity. The data bolster arguments that KSS is a unique disorder and genetic in origin." @default.
- W4243977051 created "2022-05-12" @default.
- W4243977051 creator A5017883173 @default.
- W4243977051 creator A5026772758 @default.
- W4243977051 creator A5048857899 @default.
- W4243977051 creator A5059681791 @default.
- W4243977051 creator A5060561492 @default.
- W4243977051 creator A5071211755 @default.
- W4243977051 creator A5080153886 @default.
- W4243977051 date "1988-08-01" @default.
- W4243977051 modified "2023-10-18" @default.
- W4243977051 title "Deletions of mitochondrial DNA in Kearns-Sayre syndrome" @default.
- W4243977051 doi "https://doi.org/10.1212/wnl.38.8.1339" @default.
- W4243977051 hasPublicationYear "1988" @default.
- W4243977051 type Work @default.
- W4243977051 citedByCount "290" @default.
- W4243977051 countsByYear W42439770512012 @default.
- W4243977051 countsByYear W42439770512013 @default.
- W4243977051 countsByYear W42439770512014 @default.
- W4243977051 countsByYear W42439770512015 @default.
- W4243977051 countsByYear W42439770512016 @default.
- W4243977051 countsByYear W42439770512017 @default.
- W4243977051 countsByYear W42439770512018 @default.
- W4243977051 countsByYear W42439770512019 @default.
- W4243977051 countsByYear W42439770512020 @default.
- W4243977051 countsByYear W42439770512021 @default.
- W4243977051 crossrefType "journal-article" @default.
- W4243977051 hasAuthorship W4243977051A5017883173 @default.
- W4243977051 hasAuthorship W4243977051A5026772758 @default.
- W4243977051 hasAuthorship W4243977051A5048857899 @default.
- W4243977051 hasAuthorship W4243977051A5059681791 @default.
- W4243977051 hasAuthorship W4243977051A5060561492 @default.
- W4243977051 hasAuthorship W4243977051A5071211755 @default.
- W4243977051 hasAuthorship W4243977051A5080153886 @default.
- W4243977051 hasBestOaLocation W42439770511 @default.
- W4243977051 hasConcept C104317684 @default.
- W4243977051 hasConcept C151994961 @default.
- W4243977051 hasConcept C153911025 @default.
- W4243977051 hasConcept C24586158 @default.
- W4243977051 hasConcept C2775833069 @default.
- W4243977051 hasConcept C2780854726 @default.
- W4243977051 hasConcept C2781396761 @default.
- W4243977051 hasConcept C28859421 @default.
- W4243977051 hasConcept C2910199120 @default.
- W4243977051 hasConcept C54355233 @default.
- W4243977051 hasConcept C86803240 @default.
- W4243977051 hasConceptScore W4243977051C104317684 @default.
- W4243977051 hasConceptScore W4243977051C151994961 @default.
- W4243977051 hasConceptScore W4243977051C153911025 @default.
- W4243977051 hasConceptScore W4243977051C24586158 @default.
- W4243977051 hasConceptScore W4243977051C2775833069 @default.
- W4243977051 hasConceptScore W4243977051C2780854726 @default.
- W4243977051 hasConceptScore W4243977051C2781396761 @default.
- W4243977051 hasConceptScore W4243977051C28859421 @default.
- W4243977051 hasConceptScore W4243977051C2910199120 @default.
- W4243977051 hasConceptScore W4243977051C54355233 @default.
- W4243977051 hasConceptScore W4243977051C86803240 @default.
- W4243977051 hasIssue "8" @default.
- W4243977051 hasLocation W42439770511 @default.
- W4243977051 hasOpenAccess W4243977051 @default.
- W4243977051 hasPrimaryLocation W42439770511 @default.
- W4243977051 hasRelatedWork W1606724156 @default.
- W4243977051 hasRelatedWork W1972728872 @default.
- W4243977051 hasRelatedWork W2100704541 @default.
- W4243977051 hasRelatedWork W2407635255 @default.
- W4243977051 hasRelatedWork W2409913889 @default.
- W4243977051 hasRelatedWork W2435073434 @default.
- W4243977051 hasRelatedWork W2484313277 @default.
- W4243977051 hasRelatedWork W3024114851 @default.
- W4243977051 hasRelatedWork W4243977051 @default.
- W4243977051 hasRelatedWork W67371354 @default.
- W4243977051 hasVolume "38" @default.
- W4243977051 isParatext "false" @default.
- W4243977051 isRetracted "false" @default.
- W4243977051 workType "article" @default.