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

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 KrarupAndreas 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

1 Citation (Scopus)

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Medicine and Dentistry

Neuroscience

Immunology and Microbiology

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Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science