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 journalArticle

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.

Original languageEnglish (US)
Pages (from-to)117-123
Number of pages7
JournalJournal of Clinical Neuromuscular Disease
Volume19
Issue number3
DOIs
StatePublished - Jan 1 2018

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Muscular Diseases
Mitochondrial DNA
Muscles
Mitochondrial Myopathies
Myositis
Comparative Genomic Hybridization
Myalgia
Creatine Kinase
Biopsy

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy. / Leung, Doris G.; Cohen, Julie S.; Michelle, Elizabeth; Bai, Renkui; Mammen, Andrew L.; Christopher-Stine, Lisa.

In: Journal of Clinical Neuromuscular Disease, Vol. 19, No. 3, 01.01.2018, p. 117-123.

Research output: Contribution to journalArticle

Leung, Doris G. ; Cohen, Julie S. ; Michelle, Elizabeth ; Bai, Renkui ; Mammen, Andrew L. ; Christopher-Stine, Lisa. / Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy. In: Journal of Clinical Neuromuscular Disease. 2018 ; Vol. 19, No. 3. pp. 117-123.
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