Targeted next-generation sequencing expands the spectrum of mitochondrial disorders

被引：0

作者：

Si Houn Hahn

机构：

[1] University of Washington School of Medicine,Department of Pediatrics, Division of Genetic Medicine

[2] Seattle Children's Hospital,undefined

来源：

Genome Medicine | / 4卷

关键词：

Heterogeneity; mitochondria; mitochondrial disorders; mutations; next-generation sequencing;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Next-generation sequencing has become a powerful tool for testing genetically and clinically heterogeneous conditions such as mitochondrial disorders. A recent study published in Science Translational Medicine underscores the considerable clinical benefits of targeted next-generation sequencing for the diagnosis of mitochondrial disorders. The findings also suggest that the genetic heterogeneity that can result in mitochondrial disease appears much broader than previously thought.

引用

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