Metabolic myopathy due to lactate transporter defect
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Sign InDescription
A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
3