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

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Zaharieva, I., Thor, M. G, Oates, E., Karnebeek, C., Hendson, G., Blom, E., Witting, N., Rasmussen, M., Gabbett, M., Ravenscroft, G., Sframeli, M., Suetterlin, K., Sarkozy, A., D'Argenzio, L., Hartley, L., Matthews, E., Pitt, M., Vissing, J., Ballegaard, M., Krarup, C., Slørdahl, A., Halvorsen, H., Cyntia Ye, X., Zhang, L., Løkken, N., Werlauff, U., Abdelsayed, M., Davis, M. R, Feng, L., Phadke, R., Sewry, C. A, Morgan, J., Laing, N. G., Vallance, H., Ruben, P., Hanna, M. G, Lewis, S., Kamsteeg, E., Männikkö, R., & Muntoni, F. Brain, 139(3):674–691, 2016.

Paper doi bibtex

@article{zaharieva_loss--function_2016,
	Author = {Zaharieva, Irena and Thor, Michael G and Oates, Emily and Karnebeek, Clara and Hendson, Glenda and Blom, Eveline and Witting, Nanna and Rasmussen, Magnhild and Gabbett, Michael and Ravenscroft, Gianina and Sframeli, Maria and Suetterlin, Karen and Sarkozy, Anna and D'Argenzio, Luigi and Hartley, Louise and Matthews, Emma and Pitt, Matthew and Vissing, John and Ballegaard, Martin and Krarup, Christian and Sl{ø}rdahl, Andreas and Halvorsen, Hanne and Cyntia Ye, Xin and Zhang, Lin-Hua and L{ø}kken, Nicoline and Werlauff, Ulla and Abdelsayed, Mena and Davis, Mark R and Feng, Lucy and Phadke, Rahul and Sewry, Caroline A and Morgan, Jennifer and Laing, Nigel G. and Vallance, Hilary and Ruben, Peter and Hanna, Michael G and Lewis, Suzanne and Kamsteeg, Erik-Jan and M{ä}nnikk{ö}, Roope and Muntoni, Francesco},
	Doi = {10.1093/brain/awv352},
	Journal = {Brain},
	Number = {3},
	Pages = {674--691},
	Title = {Loss-of-function mutations in {SCN}4A cause severe foetal hypokinesia or 'classical' congenital myopathy},
	Url = {http://www.brain.oupjournals.org/},
	Volume = {139},
	Year = {2016},
	Bdsk-Url-1 = {http://www.brain.oupjournals.org/},
	Bdsk-Url-2 = {https://doi.org/10.1093/brain/awv352}}

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