Open Access

ARTICLE

Mitochondrial DNA mutation “m.3243A>G”—Heterogeneous clinical picture for cardiologists (“m.3243A>G”: A phenotypic chameleon)

Katharina Niedermayr¹, Gerhard Pölzl², Sabine Scholl‐Bürgi¹, Christine Fauth³, Ulrich Schweigmann¹, Edda Haberlandt¹, Ursula Albrecht¹, Manuela Zlamy¹, Wolfgang Sperl⁴, Johannes A. Mayr⁴, Daniela Karall¹

1 Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria
2 University Hospital for Internal Medicine III, Cardiology and Angiology, Medical University of Innsbruck, Innsbruck, Austria
3 Department of Medical Genetics, Molecular and Clinical Pharmacology, Human Genetics Division, Medical University of Innsbruck, Innsbruck, Austria
4 University Children’s Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria

* Corresponding Authors: Daniela Karall, MD and Katharina Niedermayr, MD, Department of Child and Adolescent Health, Paediatrics I/III, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Emails: (Daniela Karall), (Katharina Niedermayr)