A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

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• 作者：Marcin Bednarz^a ; ¹ ; Bas C. Stunnenberg^b ; ¹ ; Benno Kusters^c ; ^d ; Erik-Jan Kamsteeg^e ; Christiaan G. Saris^b ; James Groome^f ; Vern Winston^f ; Giovanni Meola^g ; Karin Jurkat-Rott^a ; Nicol C. Voermans^b ; ^{Nicol.Voermans@Radboudumc.nl}
• 关键词：Myopathy ; NaV1.4 voltage-gated sodium channel ; Paramyotonia congenita ; Whole-cell recording
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：27
• 期：2
• 页码：175-182
• 全文大小：1628 K
• 卷排序：27

文摘

Novel p.Ile1455Thr in IVS4 variant with varying phenotype. Loss-of-function feature of the variant conduces to progressive myopathy in patient 1. Gain-of-function features explain paramyotonic phenotype in case 2.