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This was also the case of the referral from Macau who was a 10-year-old proband with dilated cardiomyopathy.6 Founder Mutation R254X In 2002, we reported for the first time a common mutation, R254X which was found in referral cases from Macau, Taipei, and Kaohsiung.6 R254X is a mutation changing the codon 254 from Arginine to a stop codon which causes a loss of function of the transporter