Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mo...

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Egile Nagusiak: Irina Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson, Eveline W Blom, Nanna Witting, Magnhild Rasmussen, Michael T. Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sárközy, L. 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 C. Ruben, Michael G. Hanna, M. E. Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni
Formatua: Artigo
Hizkuntza:ingelesa
Argitaratua: 2015
Sarrera elektronikoa:https://doi.org/10.1093/brain/awv352
https://academic.oup.com/brain/article-pdf/139/3/674/24173491/awv352.pdf
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https://doi.org/10.1093/brain/awv352
https://academic.oup.com/brain/article-pdf/139/3/674/24173491/awv352.pdf

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