✦ LIBER ✦

1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM)

✍ Scribed by A.D. Gika; S. Lillis; T. Cullup; I. Bodi; P. Manta; R. Pons; E. Yatrakou; K. Karachristou; M. Tzeti; S. Youroukos; F. Muntoni; S. Abbs; H. Jungbluth

Book ID: 114360294
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 38 KB
Volume: 15
Category: Article
ISSN: 1090-3798
DOI: 10.1016/s1090-3798(11)70051-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

G.P.1.04 An autosomal-recessive form of

G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene

✍ J. Wilmshurst; S. Lillis; H. Zhou; W. Kress; R. Solomon; A. Ndondo; J. Greenberg 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 43 KB