Article
The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.
Human mutation - 1 Jan 1998
Virtaneva K, Paulin L, Krahe R, de la Chapelle A, Lehesjoki A E
Abstract excerpt
Mutations in the cystatin B (CSTB) gene underlie progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) (Pennacchio et al., 1996). We previously described an unstable minisatellite expansion mutation in the putative promoter region of CSTB that accounts for the majority of EPM1 patients. Sequencing of a genomic lambda clone, generated from a Finnish EPM1 patient homozygous for an enlarged restriction...
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