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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