Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered...

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Bibliographic Details
Main Authors: Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, Coen Ottenheijm, Thomas Irving, Henk Granzier
Format: Article
Language:English
Published: Nature Publishing Group 2020-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-16526-9

Internet

https://doi.org/10.1038/s41467-020-16526-9

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