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  2. Brody myopathy

Brody myopathy

Definition:

Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium reuptake. Mutations in the human ATP2A1 gene, that encodes one of the SERCA Ca(2+)-ATPases, cause Brody myopathy.

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