Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopath...
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
About this item
Full title
Author / Creator
Ross, Jacob A. , Levy, Yotam , Ripolone, Michela , Kolb, Justin S. , Turmaine, Mark , Holt, Mark , Lindqvist, Johan , Claeys, Kristl G. , Weis, Joachim , Monforte, Mauro , Tasca, Giorgio , Moggio, Maurizio , Figeac, Nicolas , Zammit, Peter S. , Jungbluth, Heinz , Fiorillo, Chiara , Vissing, John , Witting, Nanna , Granzier, Henk , Zanoteli, Edmar , Hardeman, Edna C. , Wallgren-Pettersson, Carina and Ochala, Julien
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
Authors, Artists and Contributors
Author / Creator
Levy, Yotam
Ripolone, Michela
Kolb, Justin S.
Turmaine, Mark
Holt, Mark
Lindqvist, Johan
Claeys, Kristl G.
Weis, Joachim
Monforte, Mauro
Tasca, Giorgio
Moggio, Maurizio
Figeac, Nicolas
Zammit, Peter S.
Jungbluth, Heinz
Fiorillo, Chiara
Vissing, John
Witting, Nanna
Granzier, Henk
Zanoteli, Edmar
Hardeman, Edna C.
Wallgren-Pettersson, Carina
Ochala, Julien
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6689292
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6689292
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-019-02034-8
