Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

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 meiotical...

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Veröffentlicht in:	Human mutation 2003-05, Vol.21 (5), p.553-553
Hauptverfasser:	van der Sluijs, Barbara M., van Engelen, Baziel G.M., Hoefsloot, Lies H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Base Sequence DNA - chemistry DNA - genetics DNA Mutational Analysis duplication Family Health Female Gene Duplication Humans Male Middle Aged Muscular Dystrophy, Oculopharyngeal - genetics Mutation oculopharyngeal muscular dystrophy PABP2 PABPN1 Peptides - genetics Poly(A)-Binding Protein II - genetics Trinucleotide Repeat Expansion - genetics
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