两个新的罕见致病变异DES基因引起远端肌原纤维肌病

O. Carbunar, M. Saporta, Sakir H Gultekin
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引用次数: 0

摘要

肌原纤维肌病与广泛的临床表型相关,影响25-45岁之间的个体,伴有近端、远端或全身性无力。除了累及骨骼肌外,心脏也会受到影响,充血性心力衰竭和心律失常可能是该病的主要特征。在这里,我们提出了两个新的变异DES引起的desc -肌原纤维肌病。这些变异不存在于人口数据库中,也未在文献中报道。这些新的致病变异的发现有助于进一步了解这种疾病,并有助于未来患者的诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Two new rare pathogenic variants in DES gene causing distal myofibrillar myopathy
Myofibrilar myopathy is associated with a wide spectrum of clinical phenotypes, affecting individuals between the age of 25-45 year of age with proximal, distal or generalized weakness. In addition to the skeletal muscle being involved, the heart can be affected and congestive heart failure and arrhythmias can be the predominant feature of the disease. Here, we present 2 new variants in DES causing desmin-myofibrillary myopathies. These variants are not present in population databases and they were not reported in the literature. The discovery of new pathogenic variants such as these ones, help further understanding of this disease and facilitate diagnosis in future patients.
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