PDF(Pubmed)
Abstract：
Laminopathy is muscular dystrophy caused by an LMNA 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 LMNA gene. Laminopathy can be an underlying disease in ischemic stroke, especially in young to middle age.
摘要：
层流病是由LMNA基因突变引起的肌营养不良。其特征在于心脏疾病如心房颤动。我们报告了一例49岁的患有心源性中风的妇女的椎板病。她从小就经历过四肢腰带肌肉的虚弱，心房颤动,心肌病,踝关节轻度挛缩,有家族性心脏病史.基因分析确定了一个新的杂合变体，c.1135C>A（p.Leu379Ile)，LMNA基因.层流病可能是缺血性中风的潜在疾病，尤其是年轻到中年。
