Broad Age of Onset May Link GAA Variants With Modifying Factors

Broad Age of Onset May Link GAA Variants With Modifying Factors

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Broad Age of Onset May Link GAA Variants With Modifying Factors

The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making on the start of treatment … and for research into the identification of additional modifying factors,” its scientists wrote. The study, “Broad variation in phenotypes for…

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