坦戈2:一种罕见但重要的突变
Benjamin Walters1, Nathan McConkey2, Jason R Imundo3
1Pennsylvania State University School of Medicine, Hershey, PA, USA.
概括
TANGO2 缺乏症是一种罕见的遗传性疾病,可以引起严重的症状,包括肌肉炎,甲状腺功能低下和危及生命的心律失常. 早期遗传检测对于准确的诊断和治疗至关重要.
科学领域:
- 遗传学和分子生物学
- 心脏病学 心脏病学
- 儿科 儿科 儿科
背景情况:
- 一个7岁的男孩出现了后病毒性肌肉炎,体溶解和肝炎.
- 后来他因为类似发作的活动而重新入院,并因QT延长和严重的甲状腺功能低下而被诊断为多态心室性心力衰竭.
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