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Updated: May 23, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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错误的EMD变体导致X相关的隔离扩张性心肌病与心肌素缺乏症

Linda Bulmer1,2, Charlotta Ljungman2,3, Johan Hallin1

  • 1Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.

European journal of human genetics : EJHG
|March 11, 2025
PubMed
概括

在EMD基因的致病变体导致X相关的Emery-Dreifuss肌肉衰竭1型. 这项研究确定了一种与孤立扩张性心肌病 (DCM) 相关的新型EMD基因变异,没有肌肉发育不良,这表明有不同的心脏表型.

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