A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

  title={A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.},
  author={So-Young Moon and H. Kim and Jung-Im Seok and Jae-Chul Kwon and Chang Seok Ki and Jong-Won Kim and Y O Suh and Duk L. Na},
  journal={Journal of Korean Medical Science},
  pages={141 - 144}
We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel mutation in the NOTCH3 gene. The patient's clinical features were rather unusual in that 1) clinical presentations were only two episodes of stroke and mild dementia unaccompanied by mood disturbances or migraine, and 2) there was no family history. Brain MRI showed T2… CONTINUE READING
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R133C mutation of Notch3 gene in a Korean family with CADASIL

  • EJ Choi, JH Im, GH. Kim
  • Korean J Stroke
  • 2001
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