✦ LIBER ✦

Analysis of spontaneous EMG activity in 2 cases of Schwartz-Jampel syndrome

✍ Scribed by F. Spaans

Book ID: 115868882
Publisher: Elsevier Science
Year: 1990
Tongue: English
Weight: 116 KB
Volume: 75
Category: Article
ISSN: 0013-4694
DOI: 10.1016/0013-4694(90)92239-s

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Spectrum of HSPG2 (Perlecan) mutations i

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

✍ Morgane Stum; Claire-Sophie Davoine; Savine Vicart; Léna Guillot-Noël; Haluk Top 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 507 KB

## Communicated by Christine Van Broeckhoven Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. Only eigh

D.P.2.10 Electrophysiological studies in

D.P.2.10 Electrophysiological studies in a mouse model of Schwartz–Jampel syndrome

✍ A. Echaniz-Laguna; F. Rene; C. Marcel; M. Stum; B. Fontaine; J.P. Loeffler; S. N 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 63 KB

Dental findings and muscular-skeletal fe

Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings

✍ Kranya Victoria Díaz-Serrano; Cristina Bueno BrandaTo; Renata Bueno BrandaTo; Pl 📂 Article 📅 2006 🏛 Special Care Dentistry Association 🌐 English ⚖ 742 KB

Chondrodystrophic myotonia (schwartz-jam

Chondrodystrophic myotonia (schwartz-jampel syndrome): Report of a new case and follow-up of patients initially reported in 1969

✍ Edwards, William C. ;Root, Allen W. ;Opitz, John M. 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 393 KB 👁 1 views

144. Gait analysis in 2 cases of Hunter

144. Gait analysis in 2 cases of Hunter syndrome

✍ David Viskochil; David Stevenson; Carrie Bailey; Barb Johnson; Bruce Mcwilliams 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 41 KB

Subclinical abnormal EMG activation of t

Subclinical abnormal EMG activation of the gastrocnemii during gait analysis in restless legs syndrome: A preliminary report in 13 patients

✍ Domenico Paci; Bartolo Lanuzza; Filomena I.I. Cosentino; Antonella Belfiore; Mau 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 266 KB