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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J. Ross JA, et al. Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19. Acta Neuropathol. 2019. PMID: 31218456 Free PMC article.
Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness.
Levy Y, Ross JA, Niglas M, Snetkov VA, Lynham S, Liao CY, Puckelwartz MJ, Hsu YM, McNally EM, Alsheimer M, Harridge SD, Young SG, Fong LG, Español Y, Lopez-Otin C, Kennedy BK, Lowe DA, Ochala J. Levy Y, et al. JCI Insight. 2018 Oct 4;3(19):e120920. doi: 10.1172/jci.insight.120920. JCI Insight. 2018. PMID: 30282816 Free PMC article.
12 results