✦ LIBER ✦

N.P.1 10 A mutation in the ALS8 gene in a patient with a limb-girdle phenotype

✍ Scribed by M.L. Magalhães; R.C. Pavanello; H.C.A. Silva; M. Vainzof; M. Zatz

Book ID: 116792495
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 44 KB
Volume: 16
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2006.05.038

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel FKRP gene mutation in a Taiwanes

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

✍ Yi-Ching Lin; Terumi Murakami; Yukiko K. Hayashi; Ichizo Nishino; Ikuya Nonaka; 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 890 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

NovelUBR1gene mutation in a patient with

NovelUBR1gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome

✍ Gholam Hossein Fallahi; Mozhgan Sabbaghian; Manijeh Khalili; Nima Parvaneh; Mart 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 159 KB

P.8.12 Mild phenotype in a Limb Girdle m

P.8.12 Mild phenotype in a Limb Girdle muscular dystrophy type 2I mouse model homozygous for the common L276I mutation

✍ Krag, T.O.; Vissing, J. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 46 KB

Identification of a lamin A/C gene mutat

Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathy

✍ Shu-Hsuan Chang; Chia-Ti Tsai; Ling-Ping Lai; Meng-Huan Lei 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 88 KB

Novel SOD1 N86K mutation is associated w

Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS

✍ Marcus Beck; Michael Sendtner; Klaus V. Toyka 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a