![]() Schwartz-Jampel syndrome in two daughters of first cousins. Pavone, L., Collica, F., Grasso, A., et al. Schwartz-Jampel syndrome with dominant inheritance. Pascuzzi, M., Gratianne, R., Azzarelli, B., et al. The Japanese Journal of Anesthesiology, 53, 782–784. ![]() Anesthetic management of a child with Schwartz-Jampel syndrome. Oue, T., Nishimoto, M., Kitaura, M., et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Nicole, S., Ben Hamida, C., Beighton, P., et al. Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfield syndrome case report and literature review. Nessler, M., Puchala, J., Kwiatkowski, S., et al. Ophthalmic Plastic and Reconstructive Surgery, 22, 57–59. Schwartz-Jampel syndrome: Surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections. BMJ Case Reports Published online, Aug 30, 2015. Stuve-Wiedemann syndrome with a novel mutation. Knipe, M., Stanbury, R., Unger, S., et al. Ophthalmic plastic and Reconstructive Surgery. Treatment of blepharospasm in Schwartz-Jampel syndrome: Botulinum toxin A injection or surgery. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. Prenatal diagnosis of Schwartz-Jampel syndrome. A., Savoldelli, G., Boltshauser, E., et al. Clinico-pathogenic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): A case report. European Journal of Pediatrics, 156, 214–223. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Giedion, A., Boltshauser, E., Briner, J., et al. Botulinum-A toxin treatment of the lower eyelid improves infraorbital rhytides and widens the eye. Schwartz-Jampel syndrome with autosomal-dominant inheritance. American Journal of Human Genetics, 74, 298–305.įerrannini, E., Perniola, T., Krajewska, G., et al. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwatz-Jampel type 2 syndrome. Neuromuscular Disorders, 23, 998–1009.ĭagoneau, N., Scheffer, D., Huber, C., et al. Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome. Advanced Biomedical Research, 4, 163.īauche, S., Boerio, D., Davoine, C.-S., et al. The Schwartz-Jampel syndrome: Case report and review of literature. Journal of Neurology, Neurosurgery and Psychiatry, 86, 840–848.īasiri, K., Fatehi, F., & Katirji, B. Stiff-person syndrome: Insights into a complex autoimmune disorder. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Muscle & Nerve, 52, 5–12.Īrikawa-Hirasawa, E., Wilcox, W.
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