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Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
Myokymia is characterized by spontaneous, involuntary muscle fiber group contraction visible as vermiform movement of the overlying skin. Myokymia with episodic ataxia is a rare, autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel. In the present study,...
Autores principales: | Chen, Haijun, von Hehn, Christian, Kaczmarek, Leonard K., Ment, Laura R., Pober, Barbara R., Hisama, Fuki M. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2006
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1820748/ https://www.ncbi.nlm.nih.gov/pubmed/17136396 http://dx.doi.org/10.1007/s10048-006-0071-z |
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