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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

机译:基于体征敏感性和特异性的与POLG相关疾病的诊断流程图

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摘要

Objective Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25% adult mitochondrial diseases. Our objective was the evaluation of the specificity and sensitivity of the signs encountered with POLG mutations.
机译:目标由于编码线粒体DNA聚合酶的POLG基因突变引起的疾病据称具有非常多样的临床表现,并已提出引起多达25%的成人线粒体疾病。我们的目标是评估POLG突变体征的特异性和敏感性。

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