A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
dc.contributor.author | Perrin, Aurélien | |
dc.contributor.author | Metay, Corinne | |
dc.contributor.author | Villanova, Marcello | |
dc.contributor.author | Carlier, Robert-Yves | |
dc.contributor.author | Pegoraro, Elena | |
dc.contributor.author | Juntas Morales, Raul | |
dc.contributor.author | Stojkovic, Tanya | |
dc.contributor.author | Richard, Isabelle | |
dc.contributor.author | Richard, Pascale | |
dc.contributor.author | Romero, Norma B | |
dc.contributor.author | Granzier, Henk | |
dc.contributor.author | Koenig, Michel | |
dc.contributor.author | Malfatti, Edoardo | |
dc.contributor.author | Cossée, Mireille | |
dc.date.accessioned | 2020-09-09T19:30:01Z | |
dc.date.available | 2020-09-09T19:30:01Z | |
dc.date.issued | 2020-04-19 | |
dc.identifier.citation | Perrin, A., Metay, C., Villanova, M., Carlier, R., Pegoraro, E., & Juntas Morales, R. et al. (2020). A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Annals Of Clinical And Translational Neurology, 7(5), 846-854. doi: 10.1002/acn3.51031 | en_US |
dc.identifier.issn | 2328-9503 | |
dc.identifier.pmid | 32307885 | |
dc.identifier.doi | 10.1002/acn3.51031 | |
dc.identifier.uri | http://hdl.handle.net/10150/643309 | |
dc.description.abstract | Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy harboring three TTN variants predicted to affect titin stability and titin-myosin interactions. Muscle biopsies showed multicores, type 1 fiber uniformity and sarcomeric structure disruption with some thick filament loss. Immunohistochemistry and Western blotting revealed a marked reduction of fast myosin heavy chain isoforms. This is the first observation of a titinopathy suggesting that titin defect leads to secondary loss of fast myosin heavy chain isoforms. | en_US |
dc.language.iso | en | en_US |
dc.publisher | WILEY | en_US |
dc.rights | Copyright © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License. | en_US |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency | en_US |
dc.type | Article | en_US |
dc.type | Other | en_US |
dc.contributor.department | Univ Arizona, Dept Cellular & Mol Med | en_US |
dc.identifier.journal | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | en_US |
dc.description.note | Open access journal | en_US |
dc.description.collectioninformation | This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu. | en_US |
dc.eprint.version | Final published version | en_US |
dc.source.journaltitle | Annals of clinical and translational neurology | |
dc.source.volume | 7 | |
dc.source.issue | 5 | |
dc.source.beginpage | 846 | |
dc.source.endpage | 854 | |
refterms.dateFOA | 2020-09-09T19:30:25Z | |
dc.source.country | United States |