FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1970417600> ?p ?o ?g. }

• W1970417600 endingPage "242" @default.
• W1970417600 startingPage "238" @default.
• W1970417600 abstract "Rett syndrome (RTT) is classically defined by meeting certain clinical diagnostic criteria. It affects mostly females, and one possible pathogenic mechanism was considered to involve mitochondrial function. This was based on the finding of ultrastructural alterations in the mitochondria and decreased respiratory chain enzyme activity. However, the principal etiology of RTT has since been found to be mutations in the MECP2 gene, which is located on the X chromosome. Molecular analysis has allowed the phenotype of MECP2 mutations to be broadened beyond RTT to include girls who have mild mental retardation, autism, and an Angelman syndrome phenotype, as well as males with severe encephalopathy. We present a girl with a previously described mutation in the MECP2 gene whose phenotype is of atypical RTT. She presented with hypotonia and developmental delay in infancy without a clear period of normal development. As part of her evaluation for hypotonia, a muscle biopsy and respiratory chain enzyme analysis showed a slight decrease in respiratory chain enzyme activity consistent with previous reports. This report supports broadening the phenotype of patients who should be considered for MECP2 mutation analysis to include cases of developmental delay and hypotonia without evidence of an initial period of normal development. Furthermore, it supports the hypothesis of an underlying secondary defect in energy metabolism contributing to the pathogenesis of RTT." @default.
• W1970417600 created "2016-06-24" @default.
• W1970417600 creator A5030483051 @default.
• W1970417600 creator A5042694502 @default.
• W1970417600 creator A5075647287 @default.
• W1970417600 date "2002-07-29" @default.
• W1970417600 modified "2023-10-16" @default.
• W1970417600 title "Infantile hypotonia as a presentation of rett syndrome" @default.
• W1970417600 cites W1559742681 @default.
• W1970417600 cites W1969220135 @default.
• W1970417600 cites W1982293481 @default.
• W1970417600 cites W1984549890 @default.
• W1970417600 cites W2029471020 @default.
• W1970417600 cites W2032223619 @default.
• W1970417600 cites W2032474463 @default.
• W1970417600 cites W2035203816 @default.
• W1970417600 cites W2043493674 @default.
• W1970417600 cites W2045345793 @default.
• W1970417600 cites W2052584828 @default.
• W1970417600 cites W2059180147 @default.
• W1970417600 cites W2061239440 @default.
• W1970417600 cites W2063840478 @default.
• W1970417600 cites W2064826409 @default.
• W1970417600 cites W2074983421 @default.
• W1970417600 cites W2080061869 @default.
• W1970417600 cites W2106170401 @default.
• W1970417600 cites W2112193800 @default.
• W1970417600 cites W2113595463 @default.
• W1970417600 cites W2128647021 @default.
• W1970417600 cites W2128855322 @default.
• W1970417600 cites W2132165212 @default.
• W1970417600 cites W2159818921 @default.
• W1970417600 cites W2326953958 @default.
• W1970417600 cites W42221275 @default.
• W1970417600 cites W4239393537 @default.
• W1970417600 doi "https://doi.org/10.1002/ajmg.10633" @default.
• W1970417600 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12210319" @default.
• W1970417600 hasPublicationYear "2002" @default.
• W1970417600 type Work @default.
• W1970417600 sameAs 1970417600 @default.
• W1970417600 citedByCount "47" @default.
• W1970417600 countsByYear W19704176002012 @default.
• W1970417600 countsByYear W19704176002013 @default.
• W1970417600 countsByYear W19704176002014 @default.
• W1970417600 countsByYear W19704176002015 @default.
• W1970417600 countsByYear W19704176002016 @default.
• W1970417600 countsByYear W19704176002017 @default.
• W1970417600 countsByYear W19704176002018 @default.
• W1970417600 countsByYear W19704176002019 @default.
• W1970417600 countsByYear W19704176002020 @default.
• W1970417600 countsByYear W19704176002021 @default.
• W1970417600 countsByYear W19704176002022 @default.
• W1970417600 crossrefType "journal-article" @default.
• W1970417600 hasAuthorship W1970417600A5030483051 @default.
• W1970417600 hasAuthorship W1970417600A5042694502 @default.
• W1970417600 hasAuthorship W1970417600A5075647287 @default.
• W1970417600 hasConcept C104317684 @default.
• W1970417600 hasConcept C126322002 @default.
• W1970417600 hasConcept C127716648 @default.
• W1970417600 hasConcept C134018914 @default.
• W1970417600 hasConcept C142724271 @default.
• W1970417600 hasConcept C2777543196 @default.
• W1970417600 hasConcept C2778691456 @default.
• W1970417600 hasConcept C2778863441 @default.
• W1970417600 hasConcept C2779388368 @default.
• W1970417600 hasConcept C2779546488 @default.
• W1970417600 hasConcept C2779674439 @default.
• W1970417600 hasConcept C28859421 @default.
• W1970417600 hasConcept C2911046722 @default.
• W1970417600 hasConcept C3020377403 @default.
• W1970417600 hasConcept C3020761558 @default.
• W1970417600 hasConcept C501734568 @default.
• W1970417600 hasConcept C54355233 @default.
• W1970417600 hasConcept C71924100 @default.
• W1970417600 hasConcept C86803240 @default.
• W1970417600 hasConceptScore W1970417600C104317684 @default.
• W1970417600 hasConceptScore W1970417600C126322002 @default.
• W1970417600 hasConceptScore W1970417600C127716648 @default.
• W1970417600 hasConceptScore W1970417600C134018914 @default.
• W1970417600 hasConceptScore W1970417600C142724271 @default.
• W1970417600 hasConceptScore W1970417600C2777543196 @default.
• W1970417600 hasConceptScore W1970417600C2778691456 @default.
• W1970417600 hasConceptScore W1970417600C2778863441 @default.
• W1970417600 hasConceptScore W1970417600C2779388368 @default.
• W1970417600 hasConceptScore W1970417600C2779546488 @default.
• W1970417600 hasConceptScore W1970417600C2779674439 @default.
• W1970417600 hasConceptScore W1970417600C28859421 @default.
• W1970417600 hasConceptScore W1970417600C2911046722 @default.
• W1970417600 hasConceptScore W1970417600C3020377403 @default.
• W1970417600 hasConceptScore W1970417600C3020761558 @default.
• W1970417600 hasConceptScore W1970417600C501734568 @default.
• W1970417600 hasConceptScore W1970417600C54355233 @default.
• W1970417600 hasConceptScore W1970417600C71924100 @default.
• W1970417600 hasConceptScore W1970417600C86803240 @default.
• W1970417600 hasIssue "3" @default.
• W1970417600 hasLocation W19704176001 @default.
• W1970417600 hasLocation W19704176002 @default.
• W1970417600 hasOpenAccess W1970417600 @default.

• next