Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Author:

Bauché Stéphanie,Boerio Delphine,Davoine Claire-Sophie,Bernard Véronique,Stum Morgane,Bureau Cécile,Fardeau Michel,Romero Norma Beatriz,Fontaine Bertrand,Koenig Jeanine,Hantaï Daniel,Gueguen Antoine,Fournier Emmanuel,Eymard Bruno,Nicole Sophie

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference40 articles.

1. Perlecan: Schwartz-Jampel syndrome (SJS, MIM 255800) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH, MIM 224410);Nicole,2008

2. Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome;Mereu;Am J Dis Child,1969

3. Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities;Aberfeld;Arch Neurol,1970

4. Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle;Huttenlocher;Pediatrics,1969

5. Continuous muscle fiber activity in the Schwartz-Jampel syndrome;Taylor;Electroencephalogr Clin Neurophysiol,1972

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