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Article

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.

European journal of human genetics : EJHG - 1 May 2011

Coenen Marieke J H, Tieleman Alide A, Schijvenaars Mascha M V A P, Leferink Maike, Ranum Laura P W, Scheffer Hans, van Engelen Baziel G M

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is a progressive multisystem disease with muscle weakness and myotonia as main characteristics. The disease is caused by a repeat expansion in the zinc-finger protein 9 (ZNF9) gene on chromosome 3q21. Several reports show that patients from European ancestry share an identical haplotype surrounding the ZNF9 gene. In this study, we investigated whether the Dutch DM2 population...

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Identifiers

PMID: 21224892
DOI: 10.1038/ejhg.2010.233
PMCID: PMC3083617

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