[A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].

Abstract excerpt

患儿，男，3月龄，临床表现为肥厚型心肌病伴左心室流出道狭窄，心肌酶、肝酶异常，全外显子组测序LAMP2基因外显子4半合子嵌合变异c.467T>A（p.L156*），嵌合比例83%（167/201），为无义变异、新发致病性变异，确诊为Danon病，予口服普萘洛尔、辅酶Q10治疗。随访至8月龄，患儿生长发育正常，未出现心律失常、心力衰竭等并发症。.

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