Publikation
Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation
Wissenschaftlicher Artikel/Review - 06.12.2012
Czell David, Abicht Angela, Hench Jürgen, Weber Markus
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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.