Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation. (6th December 2012)

• Record Type: Journal Article
• Authors: Czell, David; Abicht, Angela; Hench, Jürgen; Weber, Markus
• Is Part Of: BMJ case reports. Volume 2012
• Publication Date: 2012-12-06
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2012-006980
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes comprises a number of mitochondrial disorders with a wide range of clinical presentations. We present the case of a 32-year-old patient with an m.3243A>T mitochondrial DNA mutation who presented with rhabdomyolysis after 2 days of excessive physical work. The case presented here demonstrates a new clinical phenotype associated with this pathogenic mtDNA mutation.