The Brody disease cohort study: clarification of the phenotype


Brody disease is a rare recessive myopathy characterized by exercise-induced muscle-stiffness, caused by mutations in the ATP2A1-gene, which encodes the sarcoplasmic reticulum calcium ATPase type 1 (SERCA-1) protein. Almost fifty years after the first patient with Brody disease was reported, the clinical picture is still unclear and results of ancillary investigations remain inconclusive. This may lead to incomplete recognition and under-diagnosis of the disease. Also, little is known about the natural course of the disorder and the effects of symptomatic treatment.


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