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Structural mutations in titin cause dilated cardiomyopathy

机译:替丁的结构突变导致扩张型心肌病

摘要

Provided herein are diagnostic markers and methods for identifying a subject having an increased susceptibility for developing or having dilated cardiomyopathy. The method comprises determining if the subject has a mutation in the TTN nucleic as acid or titin polypeptide. Further provided herein are methods of treating subjects having or at risk of having dilated cardiomyopathy.
机译:本文提供了诊断标志物和方法,用于鉴定对发展为或患有扩张型心肌病的敏感性增加的受试者。该方法包括确定受试者在TTN核酸中是否具有突变为酸或替丁多肽。本文进一步提供了治疗患有扩张型心肌病或有扩张型心肌病的受试者的方法。

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