Article
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Muscle & nerve - 1 Jun 2017
Fragaki Konstantina, Chaussenot Annabelle, Boutron Audrey, Bannwarth Sylvie, Cochaud Charlotte, Richelme Christian, Sacconi Sabrina, Paquis-Flucklinger Veronique
Abstract excerpt
INTRODUCTION: Acyl-coenzyme A dehydrogenase 9 (ACAD9) has a role in mitochondrial complex I (CI) assembly. Only a few patients who carry ACAD9 mutations have been reported. They mainly present with severe hypertrophic cardiomyopathy, although a minority have only mild isolated myopathy. Although the secondary factors influencing disease severity have not been elucidated, conservation of CI assembly and residual...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.