Chen Chih-Hao, Tang Sung-Chun, Su Yi-Ning, Yang Chih-Chao, Jeng Jiann-Shing
Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan.
BMC Res Notes. 2013 Jan 29;6:32. doi: 10.1186/1756-0500-6-32.
Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B. Here we present a young stroke patient who had a novel lamin A/C gene (LMNA) mutation.
This is a 39-year-old man who had slowly progressive proximal muscle weakness and cardiac arrhythmia since adolescent and a family history of similar manifestation. He sustained acute ischemic stroke in the left middle cerebral artery territory. Intravenous recombinant tissue plasminogen activator therapy was given with significant neurological improvement. Additionally, genetic sequencing of the LMNA gene of the patient identified a mutation in c.513+1 G>A that resulted in a splicing aberration.
We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.
心源性栓塞性卒中在1B型肢带型肌营养不良患者中是一种未被充分认识的并发症。在此，我们报告一名患有新型核纤层蛋白A/C基因（LMNA）突变的年轻卒中患者。
这是一名39岁男性，自青少年期起出现缓慢进展的近端肌无力和心律失常，且有类似表现的家族史。他在左侧大脑中动脉区域发生急性缺血性卒中。给予静脉注射重组组织型纤溶酶原激活剂治疗后神经功能有显著改善。此外，对该患者的LMNA基因进行基因测序，发现c.513+1 G>A突变，导致剪接异常。
我们建议，对于有长期肌病特征的年轻卒中患者，应考虑与LMNA基因相关的肌病。
