Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level
Abstract
Clonal expansion of mitochondrial DNA (mtDNA) deletions is an important pathological mechanism in adults with mtDNA maintenance disorders, leading to a mosaic mitochondrial respiratory chain deficiency in skeletal muscle. This study had two aims: (i) to determine if different Mendelian mtDNA maintenance disorders showed similar pattern of mtDNA deletions and respiratory chain deficiency and (ii) to investigate the correlation between the...
Paper Details
Title
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level
Published Date
May 31, 2019
Journal
Volume
47
Issue
14
Pages
7430 - 7443
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