𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A de Novo PABPN1 Germline Mutation in a Patient with Oculopharyngeal Muscular Dystrophy

✍ Scribed by Nicolas Gürtler; Martina Plasilova; Mihael Podvinec; Nemya Boesch; Hansjakob Müller; Karl Heinimann

Book ID
110087898
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
226 KB
Volume
116
Category
Article
ISSN
0023-852X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Oculopharyngeal muscular dystrophy (OPMD
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene
✍ Barbara M. van der Sluijs; Baziel G.M. van Engelen; Lies H. Hoefsloot 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

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