Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy. Issue 3 (March 2018)

• Record Type: Journal Article
• Authors: Leung, Doris G.; Cohen, Julie S.; Michelle, Elizabeth Harlan; Bai, Renkui; Mammen, Andrew L.; Christopher-Stine, Lisa
• Is Part Of: Journal of clinical neuromuscular disease. Volume 19:Issue 3(2018:Mar.)
• Publication Date: 2018-03
• Subjects: mitochondrial myopathy -- necrotizing myopathy -- metabolic myopathy -- next-generation sequencing -- mtDNA; Neuromuscular diseases -- Periodicals; 616.744005
• DOI: 10.1097/CND.0000000000000200
• Languages: English
• ISSNs: 1522-0443

Abstract

Abstract : Abstract: 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.