<i>OPA1</i> IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

Abstract

Disorders of mitochondrial DNA (mtDNA) maintenance<br/>are a major cause of sporadic and inherited<br/>neurologic disease,1 but the underlying nuclear gene<br/>defects have yet to be identified in many patients.<br/>Following the recent description of multiple mtDNA<br/>deletions in seven families with mutations in<br/>OPA1,2-4 we determined the frequency of OPA1 mutations<br/>in adult patients with multiple mtDNA deletions<br/>who did not have mutations in POLG1,<br/>POLG2, SLC25A4, and PEO1.