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伴皮质下囊肿的巨脑性白质脑病

Megalencephalic leukoencephalopathy with subcortical cysts
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摘要 伴皮质下囊肿的巨脑性白质脑病（megalencephalic leukoencephalopathy with subcortical cysts．MLC）是一种常染色体隐性遗传疾病。1995年荷兰儿科医生van der Knaap等最先报道此病，故又称为van der Knaap病，2000年Tonpcu等将此病的相关基因定位于22q13．33，
作者 王静敏 姜玉武
机构地区 北京大学第一医院儿科
出处 《中国实用儿科杂志》 CSCD 北大核心 2009年第7期514-516,共3页 Chinese Journal of Practical Pediatrics
关键词 巨脑性白质脑病 皮质下囊肿 megalencephalic leukoencephalopathy subcortical cysts
分类号 R72 [医药卫生—儿科]
  • 相关文献

参考文献9

  • 1Topcu M, Garlioux C, Ribierre F, et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel [J]. Am J Hum Genet, 2000, 66 (2): 733-739.
  • 2Leegwater PA, Yuan BQ, van der Steen J, el al. Mulations of MLCI (KIAA0027) , encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical eysls[J ]. Am J Hum Gene1,2001,68(4): 831-838.
  • 3蔚洪恩,姜玉武,王静敏,熊辉,张春雨,张月华,秦炯,吴希如.巨脑性白质脑病伴皮层下囊肿一家系MLC1基因突变分析[J].实用儿科临床杂志,2006,21(21):1497-1499. 被引量：8
  • 4Teijido O, Casaroli-Marano R, Kharkovets T, et al. Expression patterns of MLCI protein in the central and peripheral nervous systems [J].Neurnbiol Dis, 2007,26: 532-545.
  • 5llja Boor PK, de Groot K, Mejaski-Bosnjak V, et al. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 [J]. Hum Murat, 2006, 27 (6): 505-512.
  • 6Ambrosini E, Serafini B, Lanciotli A, et al. Biochemical characterization of MLC1 protein in astrocytes and its association with the, dystrophin-glycoprotein complex [J]. Mol Cell Neurosci, 2008,37: 480-493.
  • 7Gorospe JR, Maletkovic J. Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction [J]. Ment Retard Dev Disabil Res Rev,2006,12(2):113-122.
  • 8Boor PK, de Groot K, Waisfisz Q, et al. MLCI: a novel protein in distal astroglial processes [J]. J Neuropathol Exp Neurol, 2005,64: 412-419.
  • 9Montagna G, Teijido O, Eymard-Pierre E, et al. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLCI [J]. Hum Murat, 2006,27: 292-299.

二级参考文献8

  • 1Ilia Boor PK,de Groot K, Mejaski- Bosnjak V,et al. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 [ J ]. Hum Mutat, 2006, 27 ( 6 ) : 505 -512.
  • 2van der Knaap MS,Barth PG,Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children[J]. Ann Neurol, 1995,37(3) :324 - 334.
  • 3van der Knaap MS, Barth PG, Vrensan GF, et al. Histopathology of an infantile - onset Spongiform leukoencephalopathy with a discrepantly mild clinical course[J]. Acta Neuropathol (Berl), 1996,92(2):206 - 212.
  • 4Topcu M, Gartioux C, Ribierre F, et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel[ J ]. Am J Hum C, enet, 2000,66 ( 2 ) : 733 - 739.
  • 5Leegwater PA,Yuan BQ,van der Steen J, et al. Mutations of MLC1(KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts [J ]. Am J Hum Genet ,2001,68(4) :831 - 838.
  • 6Leegwater PA, Boor PK, Yuan BQ, et al. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts[J]. Hum Genet ,2002, 110(3) : 279 - 283.
  • 7Montagna G,Teijido O, Eymard - Pierre E, et al. Vacuolating megalencephallc leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1 [ J ]. Hum Mutat, 2006, 27 ( 3 ) :292.
  • 8袁宝强.巨颅伴皮层下海绵样囊肿性脑白质病[J].国外医学（儿科学分册）,2002,29(5):279-280. 被引量：2

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中国实用儿科杂志
2009年 第7期

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