A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile).

Cureus(2023)

引用 0|浏览0
暂无评分
摘要
Laminopathy is muscular dystrophy caused by an gene mutation. It is characterized by cardiac disease such as atrial fibrillation. We report a case of laminopathy in a 49-year-old woman who presented with cardiogenic stroke. She had experienced weakness in her limb-girdle muscles since childhood, atrial fibrillation, cardiomyopathy, and mild contracture of the ankle joints, and had a familial history of heart disease. Gene analysis identified a novel heterozygous variant, c. 1135C>A (p.Leu379Ile), in the gene. Laminopathy can be an underlying disease in ischemic stroke, especially in young to middle age.
更多
查看译文
关键词
lmna gene, emery-dreifuss muscular dystrophy, laminopathy, mechanical thrombectomy, intravenous tissue plasminogen activator, ischemic stroke
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要