A recessive Na(v)1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

OBJECTIVE: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient. METHODS: The proband was evaluated clinically and neurophysiologically over a period of 15 years. Genetic testing of candidate genes was performed. Fun...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurology
Prif Awduron: Habbout, Karima, Poulin, Hugo, Rivier, François, Giuliano, Serena, Sternberg, Damien, Fontaine, Bertrand, Eymard, Bruno, Morales, Raul Juntas, Echenne, Bernard, King, Louise, Hanna, Michael G., Männikkö, Roope, Chahine, Mohamed, Nicole, Sophie, Bendahhou, Said
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2016
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4731685/
https://ncbi.nlm.nih.gov/pubmed/26659129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002264
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