Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

We identified a member of the BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presence of nemaline rods and core lesions in the skeletal myofibers. Analysis of affected families allowed narrowing of the ca...

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Autors principals: Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2997379/
https://ncbi.nlm.nih.gov/pubmed/21109227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.10.020
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