Suppr超能文献

减少体肌病和其他 FHL1 相关肌肉疾病。

Reducing body myopathy and other FHL1-related muscular disorders.

机构信息

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University of Munich, Germany.

出版信息

Semin Pediatr Neurol. 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007.

Abstract

During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, and scapuloperoneal myopathy. Additionally, FHL1 mutations have been discovered in rigid spine syndrome and in a single family with contractures, rigid spine, and cardiomyopathy. In this review, we focus on the clinical phenotypes, which we correlate with the novel genetic and histological findings encountered within FHL1-related myopathies. This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation.

摘要

在过去的 2 年中,四半 LIM 结构域蛋白 1(FHL1)相关肌病领域取得了相当大的进展,导致越来越多的 FHL1 突变被识别。这一遗传进展揭示了关键的病理生理学概念,从而重新定义了临床表型。重要的新特征包括 4 种不同的人类肌病:瘦身肌病、X 连锁伴姿势性肌肉萎缩、Emery-Dreifuss 肌营养不良和肩胛带腓肠肌萎缩症。此外,在僵硬脊柱综合征和一个伴有挛缩、僵硬脊柱和心肌病的家族中也发现了 FHL1 突变。在这篇综述中,我们重点介绍了临床表型,我们将其与 FHL1 相关肌病中遇到的新的遗传和组织学发现相关联。这种相关性通常会导致与特定 FHL1 突变相关的临床谱显著扩大。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验