Article
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
Human mutation - 1 May 2003
van der Sluijs Barbara M, van Engelen Baziel G M, Hoefsloot Lies H
Abstract excerpt
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. The OPMD-locus has been mapped to chromosome 14q11.2-q13. The polyadenylate binding protein nuclear 1 (PABPN1; PABP2) gene has been identified as the mutated gene. The mutation consists of a short meiotically stable trinucleotide repeat in the first exon of PABPN1 gene. We have investigated Dutch OPMD patients from four...
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