Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

doi:10.1007/s00439-002-0755-x

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Article

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

Human genetics - 1 Sept 2002

Moulard Bruno, Genton Pierre, Grid Djamel, Jeanpierre Marc, Ouazzani Réda, Mrabet Amel, Morris Mike, LeGuern Eric, Dravet Charlotte, Mauguière François, Utermann Barbara, Baldy-Moulinier Michel, Belaidi Halima, Bertran Françoise, Biraben Arnaud, Ali Chérif André, Chkili Taieb, Crespel Arielle, Darcel Françoise, Dulac Olivier, Geny Christian, Humbert-Claude Véronique, Kassiotis Philippe, Buresi Catherine, Malafosse Alain

Abstract excerpt

Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight...

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PMID: 12215838
DOI: 10.1007/s00439-002-0755-x

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CSTB
PFKL

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