ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

Autor: Imbrici, P, Maggi, L., Mangiatordi, G. F., Dinardo, M. M., Altamura, C., Brugnoni, R., Alberga, D., Pinter, G. Lauria, Ricci, G., Siciliano, Gabriele, Micheli, R., Annicchiarico, G., Lattanzi, G., Nicolotti, O., Morandi, L., Bernasconi, P., Desaphy, J. F., Mantegazza, R., Camerino, D. Conte

Publikováno v: Journal of physiology (Lond., Print) 593 (2015): 4181–4199. doi:10.1113/JP270358
info:cnr-pdr/source/autori:Imbrici, P.; Maggi, L.; Mangiatordi, G. F.; Dinardo, M. M.; Altamura, C.; Brugnoni, R.; Alberga, D.; Pinter, G. Lauria; Ricci, G.; Siciliano, G.; Micheli, R.; Annicchiarico, G.; Lattanzi, G.; Nicolotti, O.; Morandi, L.; Bernasconi, P.; Desaphy, J. F.; Mantegazza, R.; Camerino, D. Conte/titolo:ClC-1 mutations in myotonia congenita patients: Insights into molecular gating mechanisms and genotype-phenotype correlation/doi:10.1113%2FJP270358/rivista:Journal of physiology (Lond., Print)/anno:2015/pagina_da:4181/pagina_a:4199/intervallo_pagine:4181–4199/volume:593

Loss-of-function mutations of the skeletal muscle ClC-1 channel cause myotonia congenita with variable phenotypes. Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::40e9ca84d9efc8fe818a08be7c984de8
https://europepmc.org/articles/PMC4594292/

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