Article Text

Download PDFPDF
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.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.