Schwartz–Jampel syndrome

Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

Detalles Bibliográficos
Autores principales: Chandra, Sadanandavalli Retnaswami, Issac, Thomas Gregor, Gayathri, N., Shivaram, Sumanth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/
https://www.ncbi.nlm.nih.gov/pubmed/26167227
http://dx.doi.org/10.4103/1817-1745.159202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/
https://www.ncbi.nlm.nih.gov/pubmed/26167227
http://dx.doi.org/10.4103/1817-1745.159202

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