A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Juntas Morales, Raul
Romero, Norma B
AffiliationUniv Arizona, Dept Cellular & Mol Med
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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/acn3.51031
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, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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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.
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