Title: | Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb |
Journal : | Acta neuropathologica communications, 8, 1 |
Authors: | Laitila JM ; McNamara EL ; Wingate CD ; Goullee H ; Ross JA ; Taylor RL ; van der Pijl R ; Griffiths LM ; Harries R ; Ravenscroft G ; Clayton JS ; Sewry C ; Lawlor MW ; Ottenheijm CAC ; Bakker AJ ; Ochala J ; Laing NG ; Wallgren-Pettersson C ; Pelin K ; Nowak KJ |
Material Type: | Article |
Publisher: | England, 02/2020 |
Size: | p 18 |
Languages: | English |
Keywords : | congenital myopathy ; heterozygotes ; mouse model ; NEB gene ; rod myopathy |
Keywords: | congenital myopathy;murine model;nebulin;nemaline myopathy;neuromuscular disease;skeletal muscle; |
Pubmed / DOI : | Pubmed : 32066503 / DOI : 10.1186/s40478-020-0893-1 |
N° Profil MNM : | 2020022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32066503 |