Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
作者信息
Mercier Sandra, Lornage Xavière, Malfatti Edoardo, Marcorelles Pascale, Letournel Franck, Boscher Cécile, Caillaux Gaëlle, Magot Armelle, Böhm Johann, Boland Anne, Deleuze Jean-François, Romero Norma, Péréon Yann, Laporte Jocelyn
机构信息
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
出版信息
Neurology. 2017 Jan 24;88(4):414-416. doi: 10.1212/WNL.0000000000003535. Epub 2016 Dec 21.
Abstract
摘要
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本文引用的文献
1
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.SCN4A基因的功能丧失突变会导致严重的胎儿运动减退或“经典”先天性肌病。
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2
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.一种隐性Nav1.4突变是导致伴有周期性麻痹的先天性肌无力综合征的根本原因。
Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11.
3
Focal and abnormally persistent paralysis associated with congenital paramyotonia.与先天性副肌强直相关的局灶性及异常持续性麻痹。
BMJ Case Rep. 2014 Jun 17;2014:bcr2014204430. doi: 10.1136/bcr-2014-204430.
4
Congenital myopathies: an update.先天性肌病：更新。
Curr Neurol Neurosci Rep. 2012 Apr;12(2):165-74. doi: 10.1007/s11910-012-0255-x.
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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.由肌肉钠通道基因SCN4A第672密码子突变引起的2型低钾性周期性麻痹。
Brain. 2001 Jun;124(Pt 6):1091-9. doi: 10.1093/brain/124.6.1091.
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Neurology. 1994 Aug;44(8):1500-3. doi: 10.1212/wnl.44.8.1500.
7
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.13个患有高钾性周期性麻痹和先天性副肌强直的法国家庭中肌肉钠通道基因（SCN4A）的突变：表型与基因型的相关性以及两种突变占主导地位的证明
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