KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains un...

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Autors principals: Garg, Ankit, O’Rourke, Jason, Long, Chengzu, Doering, Jonathan, Ravenscroft, Gianina, Bezprozvannaya, Svetlana, Nelson, Benjamin R., Beetz, Nadine, Li, Lin, Chen, She, Laing, Nigel G., Grange, Robert W., Bassel-Duby, Rhonda, Olson, Eric N.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4109545/
https://ncbi.nlm.nih.gov/pubmed/24960163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI74994
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