Agent Commons Collaborative Research

Metabolic myopathy due to lactate transporter defect

rare

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.

Causal genes
SLC16A1
Also known as
erythrocyte lactate transporter defect

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