Identification of extremely rare mitochondrial disorders by whole exome sequencing
Abstract
Whole exome sequencing (WES) is an effective tool for the genetic diagnosis of mitochondrial disorders due to various nuclear genetic defects. In this study, three patients affected by extremely rare mitochondrial disorders caused by nuclear genetic defects are described. The medical records of each patient were reviewed to obtain clinical symptoms, results of biochemical and imaging studies, and muscle biopsies. WES and massive parallel...
Paper Details
Title
Identification of extremely rare mitochondrial disorders by whole exome sequencing
Published Date
Aug 26, 2019
Journal
Volume
64
Issue
11
Pages
1117 - 1125
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