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 Slordahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Lokken, 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 Maennikkoe, Francesco Muntoni*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry

Immunology and Microbiology

Neuroscience

INIS

Pharmacology, Toxicology and Pharmaceutical Science