Dysferlinopathy临床、病理学发病机制研究进展
被引量:2
摘要
Dysferlinopathy是由DYSF突变导致dysferlin蛋白表达异常的一种常染色体隐性遗传性骨骼肌疾病。Dysferlin及其相关蛋白在膜损伤修复过程有重要作用。本文对dysferlinopathy临床及病理学发病机制的研究进展进行综述。
出处
《神经损伤与功能重建》
2013年第2期139-142,共4页
Neural Injury and Functional Reconstruction
参考文献38
-
1Illarioshkin SN, Ivanova-Smolen- skaya IA, Tanaka H, et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy [J]. Brain,1996,119: 1895-1909.
-
2Mahjneh I, Marconi G, Bushby K, et al. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozy- gous for the same frameshifting dysferlin mutations [J]. Neuromuscul Disord, 2011, 11: 20-26.
-
3Suzuki N, Aoki M, Takahashi T, et al. Novel dysferlin mutations and charac- teristic muscle atrophy in late-onset Miyoshi myopathy [J]. Muscle Nerve, 2004, 29: 721-723.
-
4Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair [J]. Traffic, 2007, 8: 785-794.
-
5Ho M, Gallardo E, McKenna-Yasek D, et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy [J]. Ann Neurol, 2002, 51: 129-133.
-
6Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysfer- lin-deficient muscular dystrophy [J]. Nature, 2003, 423: 168-172.
-
7Cenacchi G, Fanin M, De Giorgi LB, et al. Ultrastructural changes in dys- ferlinopathy support defective membrane repair mechanism [J]. J Clin Pathol, 2005, 58: 190-195.
-
8McNeil PL, Terasaki M. Coping with the inevitable: how cells repair a torn surface membrane[J]. Nat Cell Biol, 2001, 3: E124-129.
-
9Lennon NJ, Kho A, Bacskai B J, et al. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing [J]. J Biol Chem, 2003, 278: 50466-50473.
-
10Huang Y, Laval SK van Remoortere A, et al. AHNAK, a novel component of the dysferlin protein complex, redis- tributes to the cytoplasm with dysferlin during skeletal muscle regeneration [J]. FASEB J, 2007, 21: 732-742.
同被引文献9
-
1李娜,刘亚玲,李秋香,袁军辉,赵哲,沈宏锐,胡静.肢带型肌营养不良2B型与多发性肌炎的临床及病理鉴别诊断[J].中华神经科杂志,2009,42(9):596-599. 被引量:9
-
2周华勇,阳斌,林贞仿,陈卉娇,徐严明.Dysferlin肌病11例临床与病理特征分析[J].中国神经精神疾病杂志,2012,38(2):110-113. 被引量:3
-
3金苏芹,张巍,吕鹤,柳青,宋书娟,杜婧,肖江喜,王朝霞,袁云.dysferlinopathy 患者大腿骨骼肌 MRI 改变及其与临床表现的相关性[J].中华神经科杂志,2014,47(6):412-417. 被引量:8
-
4尹小玲,张宁,李秋香.肢带型肌营养不良2B型七例临床与病理分析[J].中国医师进修杂志,2014,37(28):7-9. 被引量:2
-
5张莹,李懋,张小兰,陈朝晖,凌丽,蒲传强,黄旭升.Dysferlinopathy患者临床表现与基因突变分析[J].北京医学,2015,37(5):415-418. 被引量:2
-
6董明睿,汪伟,卢昕,舒晓明,焦劲松,刘尊敬,郭淮莲.Dysferlinopathy的免疫病理与基因突变分析[J].中风与神经疾病杂志,2015,32(6):490-493. 被引量:2
-
7Su-Qin Jin,Meng Yu,Wei Zhang,He Lyu,Yun Yuan,Zhao-Xia Wang.Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy[J].Chinese Medical Journal,2016(19):2287-2293. 被引量:6
-
8张惠丽,李泽,成秋生,陈希,朱瑜龄,李亚勤,陈孟龙,张成.Dysferlin肌病两家系三例临床表型及基因突变分析[J].中国现代神经疾病杂志,2018,18(7):514-519. 被引量:3
-
9张炳峰.肢带型肌营养不良2B型与Miyoshi肌营养不良的研究进展[J].国外医学(遗传学分册),2003,26(1):49-51. 被引量:1
-
1张丽冉,胡静,赵哲,李娜,沈宏锐,邴琪.dysferlinopathy患者40例临床和病理分析[J].中华神经科杂志,2013,46(7):438-442. 被引量:3
-
2肖兴军,朱大海,张勇,孙威,王维治.肢带型肌营养不良两个家系的临床分析[J].中华神经科杂志,2006,39(1):55-57.
-
3王华萍.肝豆状核变性患者的护理体会[J].全科医学临床与教育,2006,4(5):433-434.
-
4陈仁华,杨嘉训.肝豆状核变性26例临床分析[J].新消化病学杂志,1993,1(2):101-101. 被引量:1
-
5王敏,笪宇威,卢岩,徐敏,刘璐,贾建平.Dysferlin蛋白缺陷的Miyoshi肌病的临床与病理学特点[J].临床神经病学杂志,2009,22(1):16-18.
-
6董明睿,汪伟,卢昕,舒晓明,焦劲松,刘尊敬,郭淮莲.Dysferlinopathy的免疫病理与基因突变分析[J].中风与神经疾病杂志,2015,32(6):490-493. 被引量:2
-
7陈涛,唐北沙,廖小平,严新翔,文国强,郭纪锋,张玉虎,曹立,李静.家族性帕金森病α-synuclein基因突变分析[J].中华老年医学杂志,2007,26(2):131-133.
-
8吴士文,马维娅,沈定国.晚发型戊二酸尿症Ⅱ型1例报告[J].临床神经病学杂志,2009,22(3):240-240. 被引量:2
-
9胡静.骨骼肌疾病的诊断基础[J].现代实用医学,2011,23(5):481-484. 被引量:1
-
10姚生,韩晓琛,戚晓昆,段枫.伴室间隔缺损的Miyoshi肌病的临床、影像和基因一例报道[J].中国神经免疫学和神经病学杂志,2014,21(6):449-451.