✦ LIBER ✦

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

✍ Scribed by Mori-Yoshimura, Madoka; Oya, Yasushi; Hayashi, Yukiko K.; Noguchi, Satoru; Nishino, Ichizo; Murata, Miho

Book ID: 122467305
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 355 KB
Volume: 23
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2012.09.007

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

G.P.30 Respiratory dysfunction in patien

G.P.30 Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

✍ Mori-Yoshimura, M.; Oya, Y.; Noguchi, S.; Hayashi, Y.K.; Nishino, I.; Murata, M. 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 47 KB

Distal myopathy with rimmed vacuoles: No

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

✍ Tomimitsu, H.; Ishikawa, K.; Shimizu, J.; Ohkoshi, N.; Kanazawa, I.; Mizusawa, H 📂 Article 📅 2002 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 283 KB

Mutation analysis of the GNE gene in dis

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

✍ Teerin Liewluck; Theeraphong Pho-Iam; Chanin Limwongse; Wanna Thongnoppakhun; Ka 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB

Late-onset distal myopathy with rimmed v

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

✍ Naoki Suzuki; Masashi Aoki; Hideki Mizuno; Yoshiaki Onodera; Toshiaki Takahashi; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB

## Abstract We report two brothers from a Japanese family with a late‐onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the __GNE__, dysferlin, caveolin 3, emerin, and lamin A/C gen

Mutation analysis of theGNEgene in Korea

Mutation analysis of theGNEgene in Korean patients with distal myopathy with rimmed vacuoles

✍ Byoung Joon Kim; Chang-Seok Ki; Jong-Won Kim; Duk Hyun Sung; Young-Chul Choi; Se 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 259 KB

Mutation analysis of theGNEgene in Korea

Mutation analysis of theGNEgene in Korean patients with distal myopathy with rimmed vacuoles

✍ Byoung Joon Kim; Chang-Seok Ki; Jong-Won Kim; Duk Hyun Sung; Young-Chul Choi; Se 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 79 KB