Ontology highlight
ABSTRACT:
SUBMITTER: Ross JA
PROVIDER: S-EPMC6689292 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Ross Jacob A JA Levy Yotam Y Ripolone Michela M Kolb Justin S JS Turmaine Mark M Holt Mark M Lindqvist Johan J Claeys Kristl G KG Weis Joachim J Monforte Mauro M Tasca Giorgio G Moggio Maurizio M Figeac Nicolas N Zammit Peter S PS Jungbluth Heinz H Fiorillo Chiara C Vissing John J Witting Nanna N Granzier Henk H Zanoteli Edmar E Hardeman Edna C EC Wallgren-Pettersson Carina C Ochala Julien J
Acta neuropathologica 20190619 3
Nemaline myopathy (NM) is a skeletal muscle disorder caused by mutations in genes that are generally involved in muscle contraction, in particular those related to the structure and/or regulation of the thin filament. Many pathogenic aspects of this disease remain largely unclear. Here, we report novel pathological defects in skeletal muscle fibres of mouse models and patients with NM: irregular spacing and morphology of nuclei; disrupted nuclear envelope; altered chromatin arrangement; and diso ...[more]