First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associa...

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Bibliografiska uppgifter
I publikationen:Yonsei Med J
Huvudupphovsmän: Kim, Ki Hoon, Song, Ju Sun, Park, Chan Wook, Ki, Chang-Seok, Heo, Kyoung
Materialtyp: Artigo
Språk:Inglês
Publicerad: Yonsei University College of Medicine 2018
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6037595/
https://ncbi.nlm.nih.gov/pubmed/29978618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2018.59.6.798
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