RNA测序证实了一种新的FHL1缺失与emry - dreifuss肌营养不良亲缘关系的致病性。

Q3 Medicine
Chinmayee B Nagaraj, Cuixia Tian, Hani Kushlaf
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引用次数: 0

摘要

摘要:FHL1的致病变异与x连锁还原性肌病、肩胛腓骨肌病、体位性肌萎缩或6型肌营养不良相关。emri - dreifuss肌营养不良症的特征是儿童期关节挛缩,从肱骨腓分布开始,逐渐延伸到肩胛骨和骨盆带肌,累及心脏,包括传导缺陷或心肌病。在这项研究中,我们报告了一名Emery-Dreifuss肌营养不良6型患者的诊断,在FHL1中发现了一个新的缺失,其致病性通过RNA测序得到澄清。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy.

Abstract: Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery-Dreifuss muscular dystrophy type 6. Emery-Dreifuss muscular dystrophy is characterized by joint contractures in childhood, progressive muscle weakness that starts in a humeroperoneal distribution and later extends to scapular and pelvic girdle muscles, and cardiac involvement that include conduction defects or cardiomyopathy. In this study, we report diagnosis of a patient with Emery-Dreifuss muscular dystrophy type 6 after identification of a novel deletion in FHL1, whose pathogenicity was clarified by RNA sequencing.

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来源期刊
CiteScore
1.60
自引率
0.00%
发文量
64
期刊介绍: Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.
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