✦ LIBER ✦

P1.34 A novel homozygous mutation of the selenoprotein gene causes rigid spine syndrome with muscular dystrophy

✍ Scribed by N.I. Izawa; Y.O. Ohsawa; Y.K. Kutoku; Y.O. Okamoto; H.T. Takashima; Y.S. Sunada

Book ID: 116794479
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 50 KB
Volume: 20
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2010.07.049

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular mechanism of rigid spine with

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

✍ Yuji Okamoto; Hiroshi Takashima; Itsuro Higuchi; Wataru Matsuyama; Masahito Sueh 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 487 KB

T.O. 3 Rescue of selenoprotein N deficie

T.O. 3 Rescue of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a homozygous mutation in the selenocysteine codon of SEPN1

✍ V. Allamand; P. Richard; C. Ledeuil; D. Chaigne; P. Guicheney; A. Krol; A. Lescu 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 48 KB

Mutations of the Selenoprotein N Gene, W

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

✍ Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathal 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 497 KB

A novel mutation in the LMNA gene causes

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

✍ Ayako Hattori; Hirofumi Komaki; Masao Kawatani; Hiroshi Sakuma; Yoshiaki Saito; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 283 KB

A novel mutation in the myotilin gene (M

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

✍ Peter Reilich; Sabine Krause; Nicolai Schramm; Ursula Klutzny; Stefanie Bulst; B 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 977 KB

Identification of a New Locus for a Pecu

Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

✍ Behzad Moghadaszadeh; Isabelle Desguerre; Haluk Topaloglu; Francesco Muntoni; Sy 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 515 KB