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Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation

Loss of Muscleblind-like 1 (Mbnl1) is known to alter Clc-1 splicing to result in myotonia. Mbnl1(ΔE3/ΔE3)/Mbnl3(ΔE2) mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very low Clc-1 currents, where gCl(max) values ap...

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Detalles Bibliográficos
Autores principales: Choi, Jongkyu, Personius, Kirkwood E., DiFranco, Marino, Dansithong, Warunee, Yu, Carl, Srivastava, Saumya, Dixon, Donald M., Bhatt, Darshan B., Comai, Lucio, Vergara, Julio L., Reddy, Sita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588380/
https://www.ncbi.nlm.nih.gov/pubmed/26501102
http://dx.doi.org/10.1016/j.ebiom.2015.07.028

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