@article{e3b33b043589423eab13dd4175a4a2f0,
title = "Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy",
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.",
keywords = "Metabolic myopathy, Mitochondrial myopathy, MtDNA, Necrotizing myopathy, Next-generation sequencing",
author = "Leung, {Doris G.} and Cohen, {Julie S.} and Elizabeth Michelle and Renkui Bai and Mammen, {Andrew L.} and Lisa Christopher-Stine",
note = "Funding Information: D. G. Leung receives support from a grant from the National Institutes of Health (5 K23 NS091379-03). The work of LC-S is funded by the Huayi and Siuling Zhang Discovery Fund. The authors thank the patients and their families for their participation and support. Funding Information: From the *Center for Genetic Muscle Disorders at Kennedy Krieger Institute, Baltimore, MD; †Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD; ‡Genetic Testing for Mitochondrial Disorders, GeneDx, Gaithersburg, MD; §Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD; and ¶Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. D. G. Leung receives support from a grant from the National Institutes of Health (5 K23 NS091379-03). The work of LC-S is funded by the Huayi and Siuling Zhang Discovery Fund. Publisher Copyright: {\textcopyright} 2017 Wolters Kluwer Health, Inc. All rights reserved.",
year = "2018",
doi = "10.1097/CND.0000000000000200",
language = "English (US)",
volume = "19",
pages = "117--123",
journal = "Journal of Clinical Neuromuscular Disease",
issn = "1522-0443",
publisher = "Lippincott Williams and Wilkins",
number = "3",
}