Identification and characterisation of ATP2A1 variants through whole exome sequencing

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SERCA1 is a sarcoplasmic reticulum calcium transport ATPase encoded by ATP2A1. This enzyme facilitates muscle relaxation by catalysing calcium uptake from the cytosol to the sarcoplasmic reticulum lumen. Damaging recessive ATP2A1 mutations can decrease the efficiency with which the SERCA1 pump sequesters cytosolic calcium after muscle contraction. The resulting rare disorder, described in 1969 as Brody myopathy, is characterised by muscle cramping and an exercise-induced delay in muscle relaxation.

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