Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Abstract Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal recessive disease due to a compound heterozygous genotype. Of the few murine mode...

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Bibliographic Details
Main Authors: Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Acta Neuropathologica Communications
Subjects:
Nebulin
Murine model
Nemaline myopathy
Skeletal muscle
Neuromuscular disease
Congenital myopathy
Online Access:http://link.springer.com/article/10.1186/s40478-020-0893-1

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