Brody myopathy

Brody myopathy

A rare muscle disorder characterised by exercise-induced impairment in muscle relaxation, due to a markedly reduced influx of calcium ions into the sarcoplasmic reticulum. A subset of autosomal recessive families have mutations of ATP2A1, which encodes the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase (SERCA1).
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