摘要
目的探讨一例Emery-Dreifuss肌营养不良2(Emery-Dreifuss muscular dystrophy 2, EDMD2)型患者的临床特点,尤其是该例的突变位点。方法收集1例EDMD2患者的临床表现、实验室检查结果、神经电生理、肌肉MRI、肌肉病理资料,并检测患者及其双亲基因,结合文献对EDMD2的临床特点、致病机制、基因突变位点进行总结讨论。结果本例EDMD患者临床特点主要表现为关节挛缩、脊柱强直,而无心脏受累。用Sanger法验证患者为LMNA基因c.1366A>G杂合错义突变。结论本例患者基因的突变位点为国内首次报道,目前仅见1例国外报道。其临床表现与既往EDMD2型患者临床表现有所不同,暂无心肌病变与心电传导障碍,考虑与患者病程不足20年有关,需继续临床随访。
Objective To investigate the clinical feature and gene mutation loci of Emery-Dreifuss Muscular Dystrophy 2(EDMD2). Methods Genetic analysis were carried out on an EDMD2 patient and her parents. The clinical manifestation, laboratory examination, muscle imaging and pathology of the muscle defined EDMD2 patient were collected with detailed literature review of EDMD2 clinical feature, pathogenesis and gene mutation loci. Results The clinical manifestation of this EDMD patients included tendon contractures and rigid spine without cardiac involvement,which was inconsistent with previous reports. The patient carried a heterozygous LMNA gene missense mutation c.1366 A>G. Conclusion The gene mutation loci of this patient is the first case reported in China and the second in the world. Different from the literature, this patient does not exhibit cardiomyopathy and electrical dysfunction. A long term follow-up is warrant given that course of this disease is less than 20 years.
引文
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