Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.
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.


METHODS
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.


CONCLUSIONS
We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.
Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan.
Chih-Hao
CH
Chen
Sung-Chun
SC
Tang
Yi-Ning
YN
Su
Chih-Chao
CC
Yang
Jiann-Shing
JS
Jeng
D000328:Adult; D006801:Humans; D020766:Intracranial Embolism / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics; D020521:Stroke / Q000150:complications* / Q000235:genetics