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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.
Brain. 2016.
PMID: 26700687
Free PMC article.
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS.
Lee SC, et al.
J Clin Neurol. 2009 Dec;5(4):186-91. doi: 10.3988/jcn.2009.5.4.186. Epub 2009 Dec 31.
J Clin Neurol. 2009.
PMID: 20076800
Free PMC article.
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