【摘 要】
:
伴皮层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的单基因遗传病,典型表现为出生后头围大与缓
【机 构】
:
北京大学第一医院儿科,北京100034MontrealNeurologicalInstitute,Montreal,Quebec,Canada山西医科大学,太原030001
论文部分内容阅读
伴皮层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的单基因遗传病,典型表现为出生后头围大与缓慢进展性运动功能障碍如走路不稳、共济失调、肢体痉挛和瘫痪.头颅MRI特征性改变为弥漫性大脑白质信号异常及肿胀,伴有双侧颞叶、额叶前部和额顶交界区特征性的皮层下囊肿.其致病基因于2001年定位并命名为MLC1. MLC1基因包含12个外显子,编码377个氨基酸的MLC1蛋白,包含8个跨膜功能域,其功能尚未明确.到目前为止,人类基因突变数据库(Human Gene Mutation Database)中报道的与MLC相关的MLC1基因突变有100余种,尚未见中国人MLC1基因突变的报道.
其他文献
In plants, programmed cell death (PCD) is of fundamental importance for various developmental processes, and plays important roles in regulating adaptive re
Cyanobacteria in freshwater ecosystems can present a harmful effect on growth and development of plants through irrigation with contaminated water.Based on
A protein encoded by Atlg32080 was uniformly identified in proteomics of Arabidopsis chloroplast envelope membrane proteins, but its function remained uncle
The variation of expression pattern exhibited by a transgene as a result of random integration, known as position effect, is, among other mechanisms, a part
Menkes病(Menkes disease,MD,MIM309400)是一种罕见的X连锁隐性遗传病,国外报道其发病率约为1/50,000-1/250,000活产婴儿.致病基因ATP7A基因突变导致铜转运障碍而引起的
白质消融性白质脑病((1)eukoencephalopathy with vanishing white matter,VWM)又称儿童共济失调伴中枢神经系统髓鞘化不良(childhood ataxia with central nervous syst