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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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| Publicado no: | Yonsei Med J |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Yonsei University College of Medicine
2018
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| Assuntos: | |
| Acesso em linha: | 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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