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Updated: Jul 18, 2025

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脊柱肌肉缩 I 型,在新生儿查中呈虚假阴性:一个病例报告

Kazuhiko Hashimoto¹, Mari Yokokawa¹, Daisuke Yamashita²

¹Department of Pediatrics, Sasebo City General Hospital, Sasebo, JPN.

|August 25, 2023

概括

新生儿查 (NBS) 脊柱肌肉缩 (SMA) 可以错过特定遗传突变的病例. 这一案例凸显了对怀疑SMA的婴儿进行进一步测试的必要性,即使NBS结果是负面的.

科学领域:

遗传学遗传学是一种遗传学.
神经学神经学
儿科儿科儿科

背景情况:

脊椎肌肉缩 (SMA) 是一种遗传的神经肌肉疾病.
新生儿查 (NBS) 对SMA的早期诊断和治疗至关重要.
目前的NBS方法,主要是基于PCR的方法,检测SMN1基因中的同卵性外因子7缺失.

关键词:

错误的负值是错误的一个 mlpa mlpa.新生儿查新生儿查脊柱肌肉缩脊柱肌肉缩脊柱肌肉缩幸存者运动神经元基因基因

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