✦ LIBER ✦

Variability of the recessive oculopharyngeal muscular dystrophy phenotype

✍ Scribed by Alexander Semmler; Wolfram Kress; Stefan Vielhaber; Rolf Schröder; Cornelia Kornblum

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 441 KB
Volume: 35
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.20726

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

GCG Repeats and phenotype in oculopharyn

GCG Repeats and phenotype in oculopharyngeal muscular dystrophy

✍ Tobias Müller; Rolf Schröder; Stephan Zierz 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB

Neurogenic involvement in a case of ocul

Neurogenic involvement in a case of oculopharyngeal muscular dystrophy

✍ Yassine Boukriche; Thierry Maisonobe; Catherine Masson 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB

Variability of X-linked muscular dystrop

Variability of X-linked muscular dystrophy

✍ Kenneth H. Fischbeck; Donald L. Schotland 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB

Clinical variability of facioscapulohume

Clinical variability of facioscapulohumeral muscular dystrophy in russia

✍ Valery M. Kazakov; Dmitry I. Rudenko 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 699 KB

Limb girdle muscular dystrophy: Descript

Limb girdle muscular dystrophy: Description of a phenotype

✍ Dr. Joerg-Patrick StüBgen 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 643 KB

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