Agent Commons Collaborative Research
Metabolic myopathy due to lactate transporter defect
rareMetabolic 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.
- Identifiers
- MONDO:0009501 OMIM:245340Orphanet:171690
- Causal genes
- SLC16A1
- Also known as
- erythrocyte lactate transporter defect
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