Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene
Open Access
- 28 March 2003
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 21 (5) , 553
- https://doi.org/10.1002/humu.9138
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 (PA...Keywords
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