FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3158047461> ?p ?o ?g. }

• W3158047461 endingPage "e589" @default.
• W3158047461 startingPage "e589" @default.
• W3158047461 abstract "Pathogenic variants in TNNT3, the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A, was identified in a patient with nemaline myopathy and distal arthrogryposis. Here, we describe the second individual with congenital myopathy associated with biallelic TNNT3 variants.Clinical exome sequencing data from a patient with molecularly undiagnosed congenital myopathy underwent research reanalysis. Clinical and histopathologic data were collected and compared with the single reported patient with TNNT3-related congenital myopathy.A homozygous TNNT3 variant, c.481-1G>A, was identified. This variant alters a consensus splice acceptor and is predicted to affect splicing by multiple in silico prediction tools. Both the patient reported here and the previously published patient exhibited limb, bulbar, and respiratory muscle weakness from birth, which improved over time. Other shared features include history of polyhydramnios, hypotonia, scoliosis, and high-arched palate. Distal arthrogryposis and nemaline rods, findings reported in the first patient with TNNT3-related congenital myopathy, were not observed in the patient reported here.This report provides further evidence for the association of biallelic TNNT3 variants with severe recessive congenital myopathy with or without nemaline rods and distal arthrogryposis. TNNT3 sequencing and copy number analysis should be incorporated into the workup of congenital myopathies." @default.
• W3158047461 created "2021-05-10" @default.
• W3158047461 creator A5000612576 @default.
• W3158047461 creator A5002411386 @default.
• W3158047461 creator A5003235209 @default.
• W3158047461 creator A5004681846 @default.
• W3158047461 creator A5023261072 @default.
• W3158047461 creator A5025719996 @default.
• W3158047461 creator A5037632112 @default.
• W3158047461 creator A5041917493 @default.
• W3158047461 creator A5047117530 @default.
• W3158047461 creator A5058160830 @default.
• W3158047461 creator A5059626751 @default.
• W3158047461 creator A5073069499 @default.
• W3158047461 creator A5075068848 @default.
• W3158047461 creator A5085407854 @default.
• W3158047461 date "2021-04-26" @default.
• W3158047461 modified "2023-10-17" @default.
• W3158047461 title "Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy" @default.
• W3158047461 cites W1517684423 @default.
• W3158047461 cites W1926834468 @default.
• W3158047461 cites W2005191830 @default.
• W3158047461 cites W2030938067 @default.
• W3158047461 cites W2042165784 @default.
• W3158047461 cites W2076753632 @default.
• W3158047461 cites W2081390254 @default.
• W3158047461 cites W2095417854 @default.
• W3158047461 cites W2095468262 @default.
• W3158047461 cites W2598900401 @default.
• W3158047461 cites W2780646183 @default.
• W3158047461 cites W2799591144 @default.
• W3158047461 cites W2809425432 @default.
• W3158047461 cites W2884715896 @default.
• W3158047461 cites W2918907317 @default.
• W3158047461 cites W2949444664 @default.
• W3158047461 cites W2950856526 @default.
• W3158047461 cites W2953375449 @default.
• W3158047461 cites W3000840952 @default.
• W3158047461 cites W3023626738 @default.
• W3158047461 cites W3089539154 @default.
• W3158047461 cites W3091027401 @default.
• W3158047461 doi "https://doi.org/10.1212/nxg.0000000000000589" @default.
• W3158047461 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8105884" @default.
• W3158047461 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33977145" @default.
• W3158047461 hasPublicationYear "2021" @default.
• W3158047461 type Work @default.
• W3158047461 sameAs 3158047461 @default.
• W3158047461 citedByCount "6" @default.
• W3158047461 countsByYear W31580474612021 @default.
• W3158047461 countsByYear W31580474612023 @default.
• W3158047461 crossrefType "journal-article" @default.
• W3158047461 hasAuthorship W3158047461A5000612576 @default.
• W3158047461 hasAuthorship W3158047461A5002411386 @default.
• W3158047461 hasAuthorship W3158047461A5003235209 @default.
• W3158047461 hasAuthorship W3158047461A5004681846 @default.
• W3158047461 hasAuthorship W3158047461A5023261072 @default.
• W3158047461 hasAuthorship W3158047461A5025719996 @default.
• W3158047461 hasAuthorship W3158047461A5037632112 @default.
• W3158047461 hasAuthorship W3158047461A5041917493 @default.
• W3158047461 hasAuthorship W3158047461A5047117530 @default.
• W3158047461 hasAuthorship W3158047461A5058160830 @default.
• W3158047461 hasAuthorship W3158047461A5059626751 @default.
• W3158047461 hasAuthorship W3158047461A5073069499 @default.
• W3158047461 hasAuthorship W3158047461A5075068848 @default.
• W3158047461 hasAuthorship W3158047461A5085407854 @default.
• W3158047461 hasBestOaLocation W31580474611 @default.
• W3158047461 hasConcept C104317684 @default.
• W3158047461 hasConcept C105702510 @default.
• W3158047461 hasConcept C12125453 @default.
• W3158047461 hasConcept C126322002 @default.
• W3158047461 hasConcept C142724271 @default.
• W3158047461 hasConcept C16671776 @default.
• W3158047461 hasConcept C187212893 @default.
• W3158047461 hasConcept C2775934546 @default.
• W3158047461 hasConcept C2777300911 @default.
• W3158047461 hasConcept C2779030066 @default.
• W3158047461 hasConcept C2779438767 @default.
• W3158047461 hasConcept C2779546488 @default.
• W3158047461 hasConcept C2779621917 @default.
• W3158047461 hasConcept C2779768179 @default.
• W3158047461 hasConcept C2779999465 @default.
• W3158047461 hasConcept C2781111119 @default.
• W3158047461 hasConcept C2911046722 @default.
• W3158047461 hasConcept C501734568 @default.
• W3158047461 hasConcept C54355233 @default.
• W3158047461 hasConcept C71924100 @default.
• W3158047461 hasConcept C86803240 @default.
• W3158047461 hasConceptScore W3158047461C104317684 @default.
• W3158047461 hasConceptScore W3158047461C105702510 @default.
• W3158047461 hasConceptScore W3158047461C12125453 @default.
• W3158047461 hasConceptScore W3158047461C126322002 @default.
• W3158047461 hasConceptScore W3158047461C142724271 @default.
• W3158047461 hasConceptScore W3158047461C16671776 @default.
• W3158047461 hasConceptScore W3158047461C187212893 @default.
• W3158047461 hasConceptScore W3158047461C2775934546 @default.
• W3158047461 hasConceptScore W3158047461C2777300911 @default.
• W3158047461 hasConceptScore W3158047461C2779030066 @default.
• W3158047461 hasConceptScore W3158047461C2779438767 @default.

• next