Echocardiographic manifestations of mitochondrial disease with GTPBP3 gene mutations: A case report.

Abstract excerpt

RATIONALE: Mitochondrial diseases are a group of disorders in which mutations in mitochondrial DNA or nuclear DNA lead to dysfunctional oxidative phosphorylation of cells, with mutations in mitochondrial DNA being the most common cause of mitochondrial disease, and mutations in nuclear genes being rarely reported. The echocardiographic findings of mitochondrial diseases with nuclear gene mutations in children's...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Echocardiography
• Share to GTP-Binding Proteins