Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201739.pdf
Reference8 articles.
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4. Koskenkorva P, Hyppönen J, Aikiä M et al: Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. Neurodegener Dis 2011; 8: 515–522.
5. Mancini GM, Schot R, de Wit MC et al: CSTB null mutation associated with microcephaly, early developmental delay and severe dyskinesia. Neurology 2016; 86: 877–878.
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