Matches in SemOpenAlex for { <https://semopenalex.org/work/W3035616246> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W3035616246 endingPage "684" @default.
- W3035616246 startingPage "680" @default.
- W3035616246 abstract "<h2>Abstract</h2> Dystrophinopathies are predominantly caused by deletions, duplications and point mutations in the coding regions of the dystrophin gene with less than 1% of all pathogenic mutations identified within intronic sequences. We describe a 17-year-old male with a Becker muscular dystrophy diagnosis and mental disability due to an intron mutation that led to aberrant splicing and formation of an additional exon. Histopathological analysis of muscle tissue revealed signs of muscular dystrophy and reduced signal for dystrophin, alpha-sarcoglycan, and alpha-dystroglycan. Multiplex ligation-dependent probe amplification screening and total sequencing of the dystrophin gene did not identify a mutation in the coding regions. However, next generation sequencing revealed an intron mutation between exons 62 and 63 of the dystrophin gene known for pseudoexon formation and disruption of the reading frame. We report a functional consequence of this mutation as an increased intracellular-weighted sodium signal (assessed by <sup>23</sup>Na-magnetic resonance imaging) in leg muscles." @default.
- W3035616246 created "2020-06-19" @default.
- W3035616246 creator A5009346845 @default.
- W3035616246 creator A5025082034 @default.
- W3035616246 creator A5029637170 @default.
- W3035616246 creator A5034258386 @default.
- W3035616246 creator A5039404447 @default.
- W3035616246 creator A5070246576 @default.
- W3035616246 date "2020-08-01" @default.
- W3035616246 modified "2023-10-18" @default.
- W3035616246 title "Rare intronic mutation between Exon 62 and 63 (c.9225–285A>G) of the dystrophin gene associated with atypical BMD phenotype" @default.
- W3035616246 cites W1776608400 @default.
- W3035616246 cites W1982273554 @default.
- W3035616246 cites W1986390501 @default.
- W3035616246 cites W1997490017 @default.
- W3035616246 cites W2003655400 @default.
- W3035616246 cites W2007742158 @default.
- W3035616246 cites W2091295485 @default.
- W3035616246 cites W2102807861 @default.
- W3035616246 cites W2115149771 @default.
- W3035616246 cites W2124156889 @default.
- W3035616246 cites W2129126185 @default.
- W3035616246 cites W2147048032 @default.
- W3035616246 cites W2328069846 @default.
- W3035616246 cites W2604598553 @default.
- W3035616246 cites W2735778907 @default.
- W3035616246 cites W2914193739 @default.
- W3035616246 cites W2965599913 @default.
- W3035616246 cites W2974177067 @default.
- W3035616246 cites W89647785 @default.
- W3035616246 doi "https://doi.org/10.1016/j.nmd.2020.06.003" @default.
- W3035616246 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32669210" @default.
- W3035616246 hasPublicationYear "2020" @default.
- W3035616246 type Work @default.
- W3035616246 sameAs 3035616246 @default.
- W3035616246 citedByCount "2" @default.
- W3035616246 countsByYear W30356162462022 @default.
- W3035616246 countsByYear W30356162462023 @default.
- W3035616246 crossrefType "journal-article" @default.
- W3035616246 hasAuthorship W3035616246A5009346845 @default.
- W3035616246 hasAuthorship W3035616246A5025082034 @default.
- W3035616246 hasAuthorship W3035616246A5029637170 @default.
- W3035616246 hasAuthorship W3035616246A5034258386 @default.
- W3035616246 hasAuthorship W3035616246A5039404447 @default.
- W3035616246 hasAuthorship W3035616246A5070246576 @default.
- W3035616246 hasConcept C104317684 @default.
- W3035616246 hasConcept C153911025 @default.
- W3035616246 hasConcept C176944494 @default.
- W3035616246 hasConcept C2778943923 @default.
- W3035616246 hasConcept C2779030066 @default.
- W3035616246 hasConcept C2780394045 @default.
- W3035616246 hasConcept C36823959 @default.
- W3035616246 hasConcept C501734568 @default.
- W3035616246 hasConcept C54355233 @default.
- W3035616246 hasConcept C54458228 @default.
- W3035616246 hasConcept C67705224 @default.
- W3035616246 hasConcept C86803240 @default.
- W3035616246 hasConcept C94671646 @default.
- W3035616246 hasConceptScore W3035616246C104317684 @default.
- W3035616246 hasConceptScore W3035616246C153911025 @default.
- W3035616246 hasConceptScore W3035616246C176944494 @default.
- W3035616246 hasConceptScore W3035616246C2778943923 @default.
- W3035616246 hasConceptScore W3035616246C2779030066 @default.
- W3035616246 hasConceptScore W3035616246C2780394045 @default.
- W3035616246 hasConceptScore W3035616246C36823959 @default.
- W3035616246 hasConceptScore W3035616246C501734568 @default.
- W3035616246 hasConceptScore W3035616246C54355233 @default.
- W3035616246 hasConceptScore W3035616246C54458228 @default.
- W3035616246 hasConceptScore W3035616246C67705224 @default.
- W3035616246 hasConceptScore W3035616246C86803240 @default.
- W3035616246 hasConceptScore W3035616246C94671646 @default.
- W3035616246 hasIssue "8" @default.
- W3035616246 hasLocation W30356162461 @default.
- W3035616246 hasOpenAccess W3035616246 @default.
- W3035616246 hasPrimaryLocation W30356162461 @default.
- W3035616246 hasRelatedWork W1546325934 @default.
- W3035616246 hasRelatedWork W1994224743 @default.
- W3035616246 hasRelatedWork W2039329821 @default.
- W3035616246 hasRelatedWork W2069856688 @default.
- W3035616246 hasRelatedWork W2074298955 @default.
- W3035616246 hasRelatedWork W2099622916 @default.
- W3035616246 hasRelatedWork W2102724571 @default.
- W3035616246 hasRelatedWork W2167075467 @default.
- W3035616246 hasRelatedWork W2340566932 @default.
- W3035616246 hasRelatedWork W2405724806 @default.
- W3035616246 hasVolume "30" @default.
- W3035616246 isParatext "false" @default.
- W3035616246 isRetracted "false" @default.
- W3035616246 magId "3035616246" @default.
- W3035616246 workType "article" @default.