Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation

Publication

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation

Journal Paper/Review - Dec 6, 2012

Czell David, Abicht Angela, Hench Jürgen, Weber Markus

Citation

Czell D, Abicht A, Hench J, Weber M. Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation. BMJ Case Rep 2012; 2012

Type

Journal Paper/Review (English)

Journal

BMJ Case Rep 2012; 2012

Publication Date

Dec 6, 2012

Issn Electronic

1757-790X

Brief description/objective

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.