Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is thought to be a disease of sarcomeric thin filaments as six of eight known genes whose mutation c...

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Main Authors: Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2013
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3852928/
https://ncbi.nlm.nih.gov/pubmed/24268659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.10.020
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