Article
Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.
PloS one - 20 Dec 2010
Sadikovic Bekim, Wang Jing, El-Hattab Ayman W, Landsverk Megan, Douglas Ganka, Brundage Ellen K, Craigen William J, Schmitt Eric S, Wong Lee-Jun C
Abstract excerpt
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular signatures surrounding...
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