原发性线粒体疾病概述
Primary Mitochondrial Disorders Overview
作者信息
Chinnery Patrick F
机构信息
Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
PMID:20301403
Abstract
The purpose of this overview is to: 1.. Describe the clinical characteristics of primary mitochondrial disorders. 2.. Provide evaluation strategies to identify the genetic cause of a primary mitochondrial disorder in a proband. 3.. Identify patient care guidelines for primary mitochondrial disorders. 4.. Inform genetic counseling of family members of an individual with a primary mitochondrial disorder.
摘要
本综述的目的是
- 描述原发性线粒体疾病的临床特征。2. 提供评估策略，以确定先证者原发性线粒体疾病的遗传原因。3. 确定原发性线粒体疾病的患者护理指南。4. 为原发性线粒体疾病患者的家庭成员提供遗传咨询。
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