为了协调线粒体医学的术语，我们提出修订的原发性线粒体综合征临床标准.
北美线粒体病联盟（NAMDC）成立了一个诊断标准委员会，由具有不同专业知识的成员组成。它包括临床医生，研究人员,诊断实验室主任,统计学家,和数据管理者。委员会进行了全面的文献审查，对当前临床实践和诊断方式的评估，调查,和电话会议，就线粒体疾病的综合征定义达成共识。在手动应用于NAMDC注册登记的患者后，对标准进行了完善。
通过建立在已公布的诊断标准的基础上，并结合最近的进展，NAMDC为经典线粒体综合征的临床定义提供了更新的共识标准。
线粒体疾病在临床上,生物化学，和遗传异质性，因此难以分类和诊断。为了统一术语，我们提出了线粒体疾病临床定义的修订标准.这些标准有望标准化线粒体疾病的诊断和分类，这将促进未来的自然史研究和临床试验。
To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes.
The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee comprised of members with diverse expertise. It included clinicians, researchers, diagnostic laboratory directors, statisticians, and data managers. The Committee conducted a comprehensive literature review, an evaluation of current clinical practices and diagnostic modalities, surveys, and teleconferences to reach
consensus on syndrome definitions for mitochondrial diseases. The criteria were refined after manual application to patients enrolled in the NAMDC Registry.
By building upon published diagnostic criteria and integrating recent advances, NAMDC has generated updated
consensus criteria for the clinical definition of classical mitochondrial syndromes.
Mitochondrial diseases are clinically, biochemically, and genetically heterogeneous and therefore challenging to classify and diagnose. To harmonize terminology, we propose revised criteria for the clinical definition of mitochondrial disorders. These criteria are expected to standardize the diagnosis and categorization of mitochondrial diseases, which will facilitate future natural history studies and clinical trials.
