Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

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• 作者：Kristien Peeters ; Paulius Palaima ; Ana L. Pelayo-Negro ; Antonio Garc&iacute ; a ; Elena Gallardo ; Rosario Garc&iacute ; a-Barredo ; Ligia Mateiu ; Jonathan Baets ; Bj&ouml ; rn Menten ; Els De Vriendt ; Peter De Jonghe ; Vincent Timmerman ; Jon Infante ; Jos&eacute ; Berciano and Albena Jordanova
• 刊名：Annals of Neurology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：80
• 期：6
• 页码：823-833
• 全文大小：492K
• ISSN：1531-8249

文摘

To identify the unknown genetic cause in a large pedigree previously classified with a distinct form of axonal Charcot–Marie–Tooth disease type 2G (CMT2G) and to explore its transcriptional consequences.