Referenced in: none

Automatically associated channels: Kir2.3 , Kir6.2 , Nav1.4

Title: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Authors: Irina T Zaharieva, Michael G Thor, Emily C Oates, Clara van Karnebeek, Glenda Hendson, Eveline Blom, Nanna Witting, Magnhild Rasmussen, Michael T Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sarkozy, Luigi D'Argenzio, Louise Hartley, Emma Matthews, Matthew Pitt, John Vissing, Martin Ballegaard, Christian Krarup, Andreas Slørdahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Løkken, Ulla Werlauff, Mena Abdelsayed, Mark R Davis, Lucy Feng, Rahul Phadke, Caroline A Sewry, Jennifer E Morgan, Nigel G Laing, Hilary Vallance, Peter Ruben, Michael G Hanna, Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni

Journal, date & volume: Brain, 2015 Dec 22 , ,

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26700687

Abstract