Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/29465611
Author: 
Christopher-Stine L
Author List: 
Leung DG
Cohen JS
Michelle EH
Bai R
Mammen AL
Christopher-Stine L
Journal: 
J Clin Neuromuscul Dis
PubMed ID: 
29465611
Pagination: 
117-123
Volume: 
19
Issue: 
3
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.
Published Date: 
March, 2018

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