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

We report the cases of two patients who presented to our Myositis Center with myalgias and elevated creatine kinase levels. Muscle biopsy showed pathologic features consistent with mitochondrial myopathy. In both cases, a single large deletion in mitochondrial DNA at low-level heteroplasmy was ident...

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Detalhes bibliográficos
Publicado no:J Clin Neuromuscul Dis
Main Authors: Leung, Doris G., Cohen, Julie S., Michelle, E. Harlan, Bai, Renkui, Mammen, Andrew L., Christopher-Stine, Lisa
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5824425/
https://ncbi.nlm.nih.gov/pubmed/29465611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/CND.0000000000000200
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