@article{
 title = {Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {Aged,Base Sequence,DNA,DNA Mutational Analysis,DNA: chemistry,DNA: genetics,Family Health,Female,Gene Duplication,Humans,Male,Middle Aged,Muscular Dystrophy, Oculopharyngeal,Muscular Dystrophy, Oculopharyngeal: genetics,Mutation,Peptides,Peptides: genetics,Poly(A)-Binding Protein II,Poly(A)-Binding Protein II: genetics,Trinucleotide Repeat Expansion,Trinucleotide Repeat Expansion: genetics},
 pages = {553},
 volume = {21},
 websites = {http://www.ncbi.nlm.nih.gov/pubmed/12673802},
 month = {5},
 id = {5bc745ae-47f1-3ee4-bb47-0d27625cb510},
 created = {2017-06-19T13:41:13.058Z},
 accessed = {2012-10-24},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:41:13.188Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 abstract = {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 unrelated families and identified a new mutation in two of the four families. Instead of a repeat expansion we found a duplication in the first exon of the PABPN1 gene (c.27_28ins12, p.11_12insAAAA). The identification of this new mutation supports the theory of unequal crossing-over as molecular mechanism causing the mutation in the PABPN1 gene responsible for OPMD, and not the slippage model.},
 bibtype = {article},
 author = {van der Sluijs, Barbara M and van Engelen, Baziel G M and Hoefsloot, Lies H},
 journal = {Human mutation},
 number = {5}
}

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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 unrelated families and identified a new mutation in two of the four families. Instead of a repeat expansion we found a duplication in the first exon of the PABPN1 gene (c.27_28ins12, p.11_12insAAAA). 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