检索结果-南通市图书馆

Congenital muscular dystrophy caused by beta1,3-Nacetylgalactosaminyltransferase 2 gene mutation:Two case reports

World Journal of Clinical Cases 2022年第3期10卷 1056-1066页

作者： Wen-Juan Wu Su-Zhen Sun Bao-Guang Li Department of Neurology Hebei Children's HospitalHebei Children's Hospital Affiliated to Hebei Medical UniversityShijiazhuang 050031Hebei ProvinceChina

BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD *** SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene *** main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white *** 2 also had unreported symptoms of meningocele and giant arachnoid *** cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been *** patients with CMD caused by B3GALNT2 gene mutation were found in the *** and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system *** magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were *** B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants.

关键词： Beta1,3-N-acetylgalactosaminyltransferase 2 gene Congenital muscular dystrophy Epilepsy language development retardation Autism Case report

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：