摘要
中央轴空病(CCD)首先由Shy和Magee于1956年报道,1958年Greenfield将其命名为CCD,为一常染色体显性遗传性肌病,主要表现为进展缓慢或无进展的四肢近端无力、肌萎缩,婴儿期或儿童期运动发育迟滞。研究已发现,
出处
《临床神经病学杂志》
CAS
北大核心
2010年第4期314-315,共2页
Journal of Clinical Neurology
参考文献19
-
1Fujimura-Kiyono C, Racz GZ, Nishino I. Neurol India, 2008, 56 :325.
-
2Romero NB, Monnier N, Viollet L, et al. Brain, 2003, 126:2341.
-
3Shepherd S, Ellis F, Halsall J, et al. J Med Genet, 2004, 41 e33.
-
4Monnier N, Romero NB, Lerale J, et al. Hum Mol Genet, 2001 10: 2581.
-
5Davis MR, Haan E, Jungbluth H, et al. Neuromuscul Disord 2003, 13: 151.
-
6Wu S, Ibarra MC, Malicdan MG, et al. Brain, 2006, 129:1470.
-
7Fananapazir L, Dalakas MC, Cyran F, et al. Proc Natl Acad Sci USA, 1993, 90:3993.
-
8Avila G, Lee E, Perez CF, et al. J Biol Chem, 2003,278:22600.
-
9Lyfenko AD, Goonasekera SA, Dirksen RT. Biochem Biophys Res Commun, 2004, 322 : 1256.
-
10Treves S, Anderson AA, Ducreux S, et al. Neuromuscul Disord, 2005, 15:577.
同被引文献23
-
1殷飞,江新梅,胡静,李娜.中央轴空病2例临床及病理分析[J].中风与神经疾病杂志,2006,23(5):538-540. 被引量:2
-
2吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量:7
-
3Quinlivan RM, Muller CR, Davis M, et al. Central core disease : clini- cal,pathological,and genetic features. Arch Dis Child,2003,8 (8) : 1051 - 1055.
-
4Zhou H, Junqbluth H, Sewry CA, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, 2007,130 ( 8 ) :2024-2036.
-
5Wu S, Ibarra MC, Malicdan MC,et al. Central core disease is due to RYRI mutations in more than 90% of patients. Brain, 2006, 129(6) : 1470-1480.
-
6Sewry CA, Muller C, Davis M, et al. The spectrum of pathology in central core disease. Neuromuscul Disord ,2002,12 ( 10 ) :930-938.
-
7Ghassemi F, Vukcevic M, Xu L,et al. A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium .2009.45 ( 2 ) : 192-197.
-
8Zvaritch E, Kraeva N, Bombardie E, et al. Ca2 ^2+ dysregulation in Ryrl14895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. PNAS, 2009,12 (106) :21812-21828.
-
9Shepherd S,Ellis F,Halsall J, et al. RYR1 mutations in UK central core disease patients:more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet ,2004,41 (3) :33-42.
-
10Lyfenko AD, Ducreux S, Wang Y, et al. Two central core disease (CCD) deletions in the C-terminal region of rYRI alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Hum Mutat ,2007,28 (1) :61 ~68.
引证文献3
-
1古媚,马维娅,吴士文.中央轴空病的临床、遗传学及发病机制研究进展[J].临床神经病学杂志,2011,24(4):318-319. 被引量:1
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2金怡汶(综述),常杏芝,秦炯(审校).中央轴空病的临床病理特征及分子遗传学研究进展[J].国际儿科学杂志,2012,39(2):206-207.
-
3宋金涛.中央轴空病1例报告[J].中国临床医学,2019,26(5):794-796. 被引量:1
二级引证文献2
-
1张天可,叶静怡,李克秋,景亚青,林允寿,冯唯,李光.1个中央轴空病家系RYR1基因的突变分析[J].国际遗传学杂志,2015,38(2):59-63. 被引量:2
-
2刘姗姗,毛舒婷,李白,魏林林,刘玉峰.RYR1基因复合杂合变异所致中央轴空病1例患儿的临床特征及遗传学分析[J].中华医学遗传学杂志,2024,41(5):581-585.
-
1薛平,王桂荣,王凤安,李春岩,郝民和.中央轴空病[J].脑与神经疾病杂志,1997,5(4):250-250.
-
2马耘田,陈颖贤,刘焯霖.中央轴空病[J].中国神经精神疾病杂志,1991,17(2):99-100. 被引量:2
-
3施振中.进行性肌营养不良症的康复研究[J].华夏医药,2006,1(4):292-293. 被引量:1
-
4王建华,赵大为,刘桂芳,冯亚青.Shy-Dragcr综合征的临床与MRI[J].脑与神经疾病杂志,2004,12(3):219-220. 被引量:11
-
5郑光新,李小六,郑丽君,梁娟,刘红.中央轴空病的康复治疗:1例报告[J].中国康复医学杂志,2010,25(1):56-60. 被引量:1
-
6古媚,马维娅,吴士文.中央轴空病的临床、遗传学及发病机制研究进展[J].临床神经病学杂志,2011,24(4):318-319. 被引量:1
-
7吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量:7
-
8葛亮,张进,肖波,李静,张宁,胡珏.中央轴空病3例报告[J].临床神经病学杂志,2004,17(3):209-209. 被引量:4
-
9笪宇威,王敏,卢岩,刘璐.常染色体显性遗传性中央轴空病的临床表现和病理特点[J].卒中与神经疾病,2009,16(6):335-337. 被引量:2
-
10马飞月,宋永建,吴华成,陈生弟,曾丽莉.Duchenne型肌营养不良症合并癫发作二例分析及文献复习[J].上海医学,2013,36(9):812-814.