Метаболічна міопатія внаслідок дефекту транспортера лактату
ORPHA:171690· ICD-10 G72.8· Metabolic myopathy due to lactate transporter defect
Визначення(English summary)
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.
- Успадкування
- Autosomal dominant