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Genetic heterogeneity of oculopharyngeal muscular dystrophy (OPMD)

✍ Scribed by C.R. Müller; W. Kress; H. Porschke; B. Halliger-Keller; T. Grimm


Book ID
116168900
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
118 KB
Volume
6
Category
Article
ISSN
0960-8966

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Oculopharyngeal muscular dystrophy (OPMD
✍ 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