You Position: Home > Paper

Clinical characteristics of hereditary myopathy cased by four and a half LIM domains 1 gene mutation: an analysis of one family

( views:0, downloads:0 )
Author:
No author available
Journal Title:
Chinese Journal of Neuromedicine
Issue:
2
DOI:
10.3760/cma.j.cn115354-20220526-00372
Key Word:
遗传性肌病;还原体肌病;FHL1基因 ;Hereditary myopathy;Reducing body myopathy;Four and a half LIM domains 1 gene

Abstract´╝Ü 4个半LIM1结构域蛋白(four and a half LIM domains 1,FHL1),也称为骨骼肌LIM蛋白1,是一个高表达于骨骼肌和心肌的多功能蛋白,人体其他组织如卵巢、肾脏、肺等中也可观察到部分FHL1蛋白表达 [1,2,3]。研究发现FHL1蛋白位于成熟骨骼肌肌节的I带和M线上,可能具有转录因子、细胞骨架支架以及生物机械应激反应等生理功能 [4,5,6,7]。 FHL1基因突变可能导致多种不同类型的肌病,如还原体肌病(reducing body myopathy,RBM)、X连锁显性遗传肩胛骨腓骨肌病(X-linked dominant scapuloperoneal myopathy,XSPM)、X连锁肌病伴体位性肌萎缩(X-linked recessive myopathy with postural muscle atrophy,XMPMA)和Emery-Dreifuss肌营养不良(Emery Dreifuss muscular dystrophy,EDMD)等 [8,9,10]。该基因突变较为罕见,相关的临床表型异质性较大,临床诊断具有极大的挑战性。北京协和医院神经内科曾收治1例 FHL1基因突变相关遗传性肌病患者,现总结分析其临床表现及家系特点,希望提高临床医师对该病的认识。

  • This article has no references!
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn