Leung Doris G, Cohen Julie S, Michelle Elizabeth Harlan, Bai Renkui, Mammen Andrew L, Christopher-Stine Lisa
Center for Genetic Muscle Disorders at Kennedy Krieger Institute, Baltimore, MD.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
J Clin Neuromuscul Dis. 2018 Mar;19(3):117-123. doi: 10.1097/CND.0000000000000200.
We report the cases of 2 patients who presented to our Myositis Center with myalgias and elevated creatine kinase levels. Muscle biopsy showed pathological features consistent with mitochondrial myopathy. In both cases, a single large deletion in mitochondrial DNA at low-level heteroplasmy was identified by next-generation sequencing in muscle tissue. In 1 case, the deletion was identified in muscle tissue but not blood. In both cases, the deletion was only identified on next-generation sequencing of muscle mitochondrial DNA and missed on array comparative genome hybridization testing. These cases demonstrate that next-generation sequencing of mitochondrial DNA in muscle tissue is the most sensitive method of molecular diagnosis for mitochondrial myopathy due to mitochondrial DNA deletions.
我们报告了2例因肌痛和肌酸激酶水平升高前来我院肌炎中心就诊的患者。肌肉活检显示出与线粒体肌病一致的病理特征。在这两例患者中，通过下一代测序在肌肉组织中发现线粒体DNA存在低水平异质性的单个大片段缺失。在1例患者中，该缺失仅在肌肉组织中被发现，而在血液中未被发现。在这两例患者中，该缺失仅在肌肉线粒体DNA的下一代测序中被发现，而在阵列比较基因组杂交检测中未被发现。这些病例表明，对于由线粒体DNA缺失导致的线粒体肌病，肌肉组织中线粒体DNA的下一代测序是最敏感的分子诊断方法。
