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Rare disease
Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation
  1. David Czell1,
  2. Angela Abicht2,
  3. Jürgen Hench3,
  4. Markus Weber1,4
  1. 1Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St.Gallen, Switzerland
  2. 2Medical Genetics Center, Munich, Germany
  3. 3Department of Neuropathology, Institute of Pathology, Basel, Switzerland
  4. 4Department of Neurology, University Hospital Basel, Basel, Switzerland
  1. Correspondence to Dr David Czell, david.czell{at}gmx.ch

Summary

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.

http://dx.doi.org/10.1136/bcr-2012-006980

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