Article
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report.
The Tokai journal of experimental and clinical medicine - 20 Sept 2018
Homma Kazunari, Nagata Eiichiro, Hanano Hideyuki, Uesugi Tsuyoshi, Ohnuki Yoichi, Matsuda Shinichi, Kazahari Shoji, Takizawa Shunya
Abstract excerpt
We had a case of Emery-Dreifuss muscular dystrophy (EDMD) in an 18-year-old woman who underwent endovascular therapy for a cardioembolic stroke. At 5 years old, she showed a high creatine kinase level and atrial fibrillation on electrocardiography in our hospital. Finally, she was diagnosed as having EDMD by genetic screening that revealed mutations in the LMNA gene (c.810+1G>T). Before this event, she received...
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