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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: O'Brien, Alan, Marshall, Christian R, Blaser, Susan, Ray, Peter N, Yoon, Grace
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2017
Aiheet:
Short Report
Linkit: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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