摘要
线粒体病是儿童时期常见的遗传代谢性疾病之一,遗传方式复杂,既有孟德尔遗传,又有线粒体母系遗传.尽管临床表现多样,诊断困难,但随着分子生物学的进步,一些线粒体综合征的临床表现和遗传特征被逐步认识,现介绍几个儿童常见线粒体综合征临床表现和遗传特征。
Mitochondrial diseases is one of the common genetic metabolic diseases in children.The inheritance patterns are complex,both mendelian inheritance and mitochondrial maternal inheritance.Although the clinical feature is various and the diagnosis is difficult,but with the development of molecular biology,some clinical and genetic features in mitochondrial syndrome were gradually clear.This paper introduced the clinical feature and genetic characteristics in several common mitochondrial syndrome of children.
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2014年第24期1841-1843,共3页
Chinese Journal of Applied Clinical Pediatrics
关键词
线粒体病
遗传
儿童
Mitochondrial diseases
Inheritance
Child
