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Metabolic myopathy due to lactate transporter defect

Disease definition

Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.


Classification level: Disorder
  • Synonym(s):
    • Erythrocyte lactate transporter defect
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: G72.8
  • OMIM: 245340
  • UMLS: C1855577
  • MeSH: -
  • GARD: -
  • MedDRA: -
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