Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy

Doris G. Leung, Julie S. Cohen, Elizabeth Michelle, Renkui Bai, Andrew L. Mammen, Lisa Christopher-Stine

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)117-123
Number of pages7
JournalJournal of Clinical Neuromuscular Disease
Issue number3
StatePublished - 2018


  • Metabolic myopathy
  • Mitochondrial myopathy
  • MtDNA
  • Necrotizing myopathy
  • Next-generation sequencing

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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