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

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 models develo...

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Pubblicato in:Acta Neuropathol Commun
Autori principali: Laitila, Jenni M., McNamara, Elyshia L., Wingate, Catherine D., Goullee, Hayley, Ross, Jacob A., Taylor, Rhonda L., van der Pijl, Robbert, Griffiths, Lisa M., Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua S., Sewry, Caroline, Lawlor, Michael W., Ottenheijm, Coen A. C., Bakker, Anthony J., Ochala, Julien, Laing, Nigel G., Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7027239/
https://ncbi.nlm.nih.gov/pubmed/32066503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-0893-1
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