Myopathy as a first symptom of Huntington's disease in a Marathon runner

@article{Kosinski2007MyopathyAA,
  title={Myopathy as a first symptom of Huntington's disease in a Marathon runner},
  author={C. Kosinski and C. Schlangen and F. Gellerich and Z. Gizatullina and M. Deschauer and J. Schiefer and A. Young and G. Landwehrmeyer and K. Toyka and B. Sellhaus and K. Lindenberg},
  journal={Movement Disorders},
  year={2007},
  volume={22}
}
A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in… Expand
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