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dc.contributor.authorPerrin, Aurélien
dc.contributor.authorMetay, Corinne
dc.contributor.authorVillanova, Marcello
dc.contributor.authorCarlier, Robert-Yves
dc.contributor.authorPegoraro, Elena
dc.contributor.authorJuntas Morales, Raul
dc.contributor.authorStojkovic, Tanya
dc.contributor.authorRichard, Isabelle
dc.contributor.authorRichard, Pascale
dc.contributor.authorRomero, Norma B
dc.contributor.authorGranzier, Henk
dc.contributor.authorKoenig, Michel
dc.contributor.authorMalfatti, Edoardo
dc.contributor.authorCossée, Mireille
dc.date.accessioned2020-09-09T19:30:01Z
dc.date.available2020-09-09T19:30:01Z
dc.date.issued2020-04-19
dc.identifier.citationPerrin, 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/acn3.51031en_US
dc.identifier.issn2328-9503
dc.identifier.pmid32307885
dc.identifier.doi10.1002/acn3.51031
dc.identifier.urihttp://hdl.handle.net/10150/643309
dc.description.abstractCongenital 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.isoenen_US
dc.publisherWILEYen_US
dc.rightsCopyright © 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.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleA new congenital multicore titinopathy associated with fast myosin heavy chain deficiencyen_US
dc.typeArticleen_US
dc.typeOtheren_US
dc.contributor.departmentUniv Arizona, Dept Cellular & Mol Meden_US
dc.identifier.journalANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYen_US
dc.description.noteOpen access journalen_US
dc.description.collectioninformationThis 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.versionFinal published versionen_US
dc.source.journaltitleAnnals of clinical and translational neurology
dc.source.volume7
dc.source.issue5
dc.source.beginpage846
dc.source.endpage854
refterms.dateFOA2020-09-09T19:30:25Z
dc.source.countryUnited States


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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.
Except where otherwise noted, this item's license is described as 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.