✦ LIBER ✦

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman

✍ Scribed by Khean Jin Goh; Kum Thong Wong; Ichizo Nishino; Narihiro Minami; Ikuya Nonaka

Book ID: 116792270
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 60 KB
Volume: 15
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2004.10.016

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A de Novo PABPN1 Germline Mutation in a

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

✍ Nicolas Gürtler; Martina Plasilova; Mihael Podvinec; Nemya Boesch; Hansjakob Mül 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 226 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

Oculopharyngeal muscular dystrophy – An

Oculopharyngeal muscular dystrophy – An under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature

✍ Chien, Yu-Yi 📂 Article 📅 2012 🏛 Chinese Electronic Periodical Services 🌐 English ⚖ 657 KB

Two cases of oculopharyngeal muscular dy

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G > C; p.Gly12Ala point mutation

✍ David O. Robinson; David Hilton-Jones; David Mansfield; Göran Darius Hildebrand; 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 306 KB

Identification of a novel mutation in a

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy

✍ Jong Seok Bae; Chang-Seok Ki; Jong-Won Kim; Byoung Joon Kim 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 158 KB

Gene diagnosis of Oculopharyngeal muscul

Gene diagnosis of Oculopharyngeal muscular dystrophy in a Chinese family by a genescan method

✍ Pan You; Qilin Ma; Tao Tao 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 233 KB

## Abstract This study aims to perform gene diagnosis for Chinese family patients with Oculopharyngeal muscular dystrophy (OPMD). Genomic DNAs were extracted from the pedigrees' members. Gene diagnosis was performed for these pedigrees' members by approaches, such as DNA sequencing and GeneScan. Se