Matches in SemOpenAlex for { <https://semopenalex.org/work/W2510179808> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2510179808 abstract "Tibial muscular dystrophy (TMD) is the first described human titinopathy. It is a mild adult-onset slowly progressive myopathy causing weakness and atrophy in the anterior lower leg muscles. TMD is caused by mutations in the last two exons, Mex5 and Mex6, of the titin gene (TTN). The first reported TMD mutations were dominant, but the Finnish founder mutation FINmaj, an 11-bp insertion/deletion in Mex6, in homozygosity caused a completely different severe early-onset limb-girdle muscular dystrophy 2J (LGMD2J). Later, we reported that not all TMD mutations cause LGMD when homozygous or compound heterozygous with truncating mutation, but some of them rather cause a more severe TMD-like distal disease. We have now performed targeted next-generation sequencing of myopathy-related genes on seven families from Albania, Bosnia, Iran, Tunisia, Belgium, and Spain with juvenile or early adult onset recessive distal myopathy. Novel mutations in TTN Mex5, Mex6 and A-band exon 340 were identified in homozygosity or compound heterozygosity with a frameshift or nonsense mutation in TTN I- or A-band region. Family members having only one of these TTN mutations were healthy. Our results add yet another entity to the list of distal myopathies: juvenile or early adult onset recessive distal titinopathy." @default.
- W2510179808 created "2016-09-16" @default.
- W2510179808 creator A5002674217 @default.
- W2510179808 creator A5019534640 @default.
- W2510179808 creator A5020364406 @default.
- W2510179808 creator A5074153564 @default.
- W2510179808 date "2015-10-01" @default.
- W2510179808 modified "2023-09-24" @default.
- W2510179808 title "Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy" @default.
- W2510179808 cites W1484166075 @default.
- W2510179808 cites W1963610754 @default.
- W2510179808 cites W1989891419 @default.
- W2510179808 cites W1990005561 @default.
- W2510179808 cites W2007572059 @default.
- W2510179808 cites W2012170616 @default.
- W2510179808 cites W2024039709 @default.
- W2510179808 cites W2041663954 @default.
- W2510179808 cites W2050674776 @default.
- W2510179808 cites W2057597792 @default.
- W2510179808 cites W2059642730 @default.
- W2510179808 cites W2071470129 @default.
- W2510179808 cites W2075300119 @default.
- W2510179808 cites W2100143162 @default.
- W2510179808 cites W2111975407 @default.
- W2510179808 cites W2128525703 @default.
- W2510179808 cites W2134126040 @default.
- W2510179808 cites W2136243484 @default.
- W2510179808 cites W2139976126 @default.
- W2510179808 cites W2139994318 @default.
- W2510179808 cites W2141984651 @default.
- W2510179808 cites W2145366164 @default.
- W2510179808 cites W2167989424 @default.
- W2510179808 cites W2174490601 @default.
- W2510179808 doi "https://doi.org/10.1016/j.nmd.2015.06.347" @default.
- W2510179808 hasPublicationYear "2015" @default.
- W2510179808 type Work @default.
- W2510179808 sameAs 2510179808 @default.
- W2510179808 citedByCount "0" @default.
- W2510179808 crossrefType "journal-article" @default.
- W2510179808 hasAuthorship W2510179808A5002674217 @default.
- W2510179808 hasAuthorship W2510179808A5019534640 @default.
- W2510179808 hasAuthorship W2510179808A5020364406 @default.
- W2510179808 hasAuthorship W2510179808A5074153564 @default.
- W2510179808 hasBestOaLocation W25101798082 @default.
- W2510179808 hasConcept C104317684 @default.
- W2510179808 hasConcept C12125453 @default.
- W2510179808 hasConcept C130895681 @default.
- W2510179808 hasConcept C16671776 @default.
- W2510179808 hasConcept C2777300911 @default.
- W2510179808 hasConcept C2778649560 @default.
- W2510179808 hasConcept C2779030066 @default.
- W2510179808 hasConcept C29906990 @default.
- W2510179808 hasConcept C36823959 @default.
- W2510179808 hasConcept C501734568 @default.
- W2510179808 hasConcept C54355233 @default.
- W2510179808 hasConcept C75563809 @default.
- W2510179808 hasConcept C86803240 @default.
- W2510179808 hasConcept C96777560 @default.
- W2510179808 hasConceptScore W2510179808C104317684 @default.
- W2510179808 hasConceptScore W2510179808C12125453 @default.
- W2510179808 hasConceptScore W2510179808C130895681 @default.
- W2510179808 hasConceptScore W2510179808C16671776 @default.
- W2510179808 hasConceptScore W2510179808C2777300911 @default.
- W2510179808 hasConceptScore W2510179808C2778649560 @default.
- W2510179808 hasConceptScore W2510179808C2779030066 @default.
- W2510179808 hasConceptScore W2510179808C29906990 @default.
- W2510179808 hasConceptScore W2510179808C36823959 @default.
- W2510179808 hasConceptScore W2510179808C501734568 @default.
- W2510179808 hasConceptScore W2510179808C54355233 @default.
- W2510179808 hasConceptScore W2510179808C75563809 @default.
- W2510179808 hasConceptScore W2510179808C86803240 @default.
- W2510179808 hasConceptScore W2510179808C96777560 @default.
- W2510179808 hasLocation W25101798081 @default.
- W2510179808 hasLocation W25101798082 @default.
- W2510179808 hasOpenAccess W2510179808 @default.
- W2510179808 hasPrimaryLocation W25101798081 @default.
- W2510179808 hasRelatedWork W1963610754 @default.
- W2510179808 hasRelatedWork W1969923362 @default.
- W2510179808 hasRelatedWork W2018073556 @default.
- W2510179808 hasRelatedWork W2022340517 @default.
- W2510179808 hasRelatedWork W2036149449 @default.
- W2510179808 hasRelatedWork W2048808011 @default.
- W2510179808 hasRelatedWork W2056736974 @default.
- W2510179808 hasRelatedWork W2080511552 @default.
- W2510179808 hasRelatedWork W2091151586 @default.
- W2510179808 hasRelatedWork W2155155847 @default.
- W2510179808 hasRelatedWork W2167290543 @default.
- W2510179808 hasRelatedWork W2282699861 @default.
- W2510179808 hasRelatedWork W2541494029 @default.
- W2510179808 hasRelatedWork W2755765192 @default.
- W2510179808 hasRelatedWork W2790330483 @default.
- W2510179808 hasRelatedWork W2947506235 @default.
- W2510179808 hasRelatedWork W3048142764 @default.
- W2510179808 hasRelatedWork W61639974 @default.
- W2510179808 hasRelatedWork W1753940646 @default.
- W2510179808 hasRelatedWork W2463121295 @default.
- W2510179808 isParatext "false" @default.
- W2510179808 isRetracted "false" @default.
- W2510179808 magId "2510179808" @default.
- W2510179808 workType "article" @default.