Features include always present findings: Malignant hyperthermia, Motor delay, Exercise-induced muscle stiffness, and Exercise-induced muscle cramps; and sometimes findings: Difficulty running. 16 total HPO annotations.

ATP2A1 encodes ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 (1,001 aa). Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Highest expression in Muscle Skeletal (1,299 TPM) and Testis (13.3 TPM).

Brody myopathy is associated with mutations in the ATP2A1 gene on chromosome 16.

The ATP2A1 protein participates in ATP2A1-3 transport Ca2+ from cytosol to ER lumen and ATP2A1-3 transport cytosolic Ca2+ to dense tubular network lumen pathways.

ATP2A1 is classified as a druggable target (Druggable Genome, Enzyme, and Transporter categories) with score 5.2.

Genetic testing for ATP2A1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Brody myopathy.

28 publications have been identified in PubMed for Brody myopathy. Research spans Basic Science / Preclinical (79%), Review / Meta-Analysis (7%), and Case Report / Case Series (7%).