Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to...

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Main Authors: Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, Elbracht, Miriam, Stendel, Claudia, Tournev, Ivailo, Mihailova, Violeta, Feit, Howard, Tramonte, Jeff, Hedera, Peter, Crooks, Kristy, Bergmann, Carsten, Rudnik-Schöneborn, Sabine, Zerres, Klaus, Lochmüller, Hanns, Seboun, Eric, Weis, Joachim, Beckmann, Jacques S., Hauser, Michael A., Jackson, Charles E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667977/
https://ncbi.nlm.nih.gov/pubmed/19344878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.006
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