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Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht–Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800). Most patients are homozygous for an expanded (>30) dodecamer repeat in the promoter region of CSTB, or are compound heterozygotes for the...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5477367/ https://ncbi.nlm.nih.gov/pubmed/28378817 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.39 |
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