Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene
Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene
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DOI：
10.1016/j.jocn.2006.12.012
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发表时间：
2008-07-01
影响因子：
2
通讯作者：
Ikeda, Shu-ichi
中科院分区：
文献类型：
--
作者：
Nakamura, Akinorl;Yoshida, Kunihiro;Ikeda, Shu-ichi
我们回顾了三个不相关的患者的骨骼受累和心脏功能的临床状态，这些患者在DMD基因中的外显子45至55的框内缺失，随后Lip治疗2至7年。两个年轻的患者诊断为X连锁扩张型心肌病（XLDCM）发展充血性心力衰竭没有明显的骨骼肌病变。病毒感染后心力衰竭复发，但对利尿剂和血管紧张素转换酶抑制剂反应良好。1例年龄较大的贝克尔肌营养不良症患者在50岁时出现肢带肌萎缩和无力，但没有任何心脏症状。每例患者的骨骼肌受累保持不变，研究期间任何患者的心功能均未恶化。在一名年轻的XLDCM患者中，骨骼肌和心肌中突变型抗肌萎缩蛋白的数量和分子量同样轻微下降。肌营养不良蛋白和肌营养不良蛋白相关蛋白的免疫染色在骨骼肌和心肌中略有减少，两者之间没有明显差异。这种抗肌萎缩蛋白病的表型在年轻患者中可以表现为XLDCM;然而，仔细注意心脏管理可能会导致良好的预后。(C)2007爱思唯尔有限公司保留所有权利。
We review the clinical status of skeletal involvement and cardiac function in three unrelated patients harboring an in-frame deletion of exons 45 to 55 in the DMD gene followed Lip for 2 to 7 years. Two younger patients diagnosed as having X-linked dilated cardiomyopathy (XLDCM) developed congestive heart failure without overt skeletal myopathy. Heart failure recurred after viral infection but responded well to diuretics and angiotensin-converting enzyme inhibitors. One older patient diagnosed with Becker muscular dystrophy showed limb-girdle muscular atrophy and weakness at the age of 50, but did not have any cardiac symptoms. Skeletal muscle involvement in each patient remained unchanged, and cardiac function did not worsen in any of the patients during the study. In a younger XLDCM patient, the amount and molecular weight of mutant dystrophin were equally slightly decreased in both skeletal and cardiac muscles. Immunostaining for dystrophin and dystrophin-associated proteins was slightly reduced in both skeletal and cardiac muscle, with no discernible difference between the two. The phenotype of this dystrophinopathy can manifest as XLDCM in younger patients; however, careful attention to cardiac management may result in a favorable prognosis. (C) 2007 Elsevier Ltd. All rights reserved.