肌营养不良蛋白中新型杆状结构域重复导致X连锁扩张型心肌病。
Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.
作者信息
Chamberlain Reid C, Smith Edward C, Campbell Michael J
机构信息
Department of Pediatrics, Duke University Medical Hospital, Durham, North Carolina.
Department of Pediatrics (Neurology), Duke University Medical Hospital, Durham, North Carolina.
出版信息
Pediatr Neurol. 2015 Nov;53(5):439-41. doi: 10.1016/j.pediatrneurol.2015.07.008. Epub 2015 Jul 26.
BACKGROUND
X-linked dilated cardiomyopathy is a rare, cardio-specific form of dystrophinopathy allelic to Duchenne and Becker muscular dystrophy that results in heart failure without skeletal muscle weakness.
PATIENT DESCRIPTION
We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy.
RESULTS
The patient was diagnosed with X-linked dilated cardiomyopathy through clinical diagnosis and genetic testing.
CONCLUSION
X-linked dilated cardiomyopathy shares genotypic overlap with Duchenne and Becker muscular dystrophy, with its distinctive feature being a lack of progressive muscular weakness.
背景
X连锁扩张型心肌病是一种罕见的、心脏特异性的肌营养不良症，与杜氏和贝克型肌营养不良症等位基因相关，可导致心力衰竭而无骨骼肌无力。
患者描述
我们描述了一名此前健康的16岁男孩，他最初出现心悸，随后发展为心力衰竭，最终发现其肌营养不良蛋白基因外显子13 - 16存在新的重复，从而诊断为X连锁扩张型心肌病。
结果
通过临床诊断和基因检测，该患者被诊断为X连锁扩张型心肌病。
结论
X连锁扩张型心肌病与杜氏和贝克型肌营养不良症存在基因型重叠，其独特特征是缺乏进行性肌肉无力。
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