Mitochondrial pathology in inclusion body myositis.
Neuromuscular Disorders（2015）
Abstract
•Cytochrome c oxidase deficiency in inclusion body myositis is caused by multiple mtDNA deletions.•Single nucleotide variants in genes controlling mtDNA maintenance may cause mtDNA deletions.•Multiple variants in nuclear genes controlling mtDNA were identified in inclusion body myositis.
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Key words
Inclusion body myositis,Mitochondrial DNA,mtDNA,Cytochrome c oxidase deficiency
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