Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

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• 作者：Chih-Hao Chen (1)
  Sung-Chun Tang (1)
  Yi-Ning Su (2)
  Chih-Chao Yang (1)
  Jiann-Shing Jeng (1)
  
• 关键词：Neuromuscular disorder ; Limb ; girdle muscular dystrophy ; Emery ; Dreifuss muscular dystrophy ; Cardioembolic stroke ; Thrombolytic therapy ; Cardiac arrhythmia
• 刊名：BMC Research Notes
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：6
• 期：1
• 全文大小：299KB
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• 作者单位：Chih-Hao Chen (1)
  Sung-Chun Tang (1)
  Yi-Ning Su (2)
  Chih-Chao Yang (1)
  Jiann-Shing Jeng (1)
  
  1. Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan
  2. Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
  

文摘

Background 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. Case presentation 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. Conclusion We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.