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
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author Chandra, Sadanandavalli Retnaswami
Issac, Thomas Gregor
Gayathri, N.
Shivaram, Sumanth
author_facet Chandra, Sadanandavalli Retnaswami
Issac, Thomas Gregor
Gayathri, N.
Shivaram, Sumanth
author_sort Chandra, Sadanandavalli Retnaswami
collection PubMed
description 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.
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spelling pubmed-44890672015-07-12 Schwartz–Jampel syndrome Chandra, Sadanandavalli Retnaswami Issac, Thomas Gregor Gayathri, N. Shivaram, Sumanth J Pediatr Neurosci Case Report 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. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4489067/ /pubmed/26167227 http://dx.doi.org/10.4103/1817-1745.159202 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Chandra, Sadanandavalli Retnaswami
Issac, Thomas Gregor
Gayathri, N.
Shivaram, Sumanth
Schwartz–Jampel syndrome
title Schwartz–Jampel syndrome
title_full Schwartz–Jampel syndrome
title_fullStr Schwartz–Jampel syndrome
title_full_unstemmed Schwartz–Jampel syndrome
title_short Schwartz–Jampel syndrome
title_sort schwartz–jampel syndrome
topic Case Report
url 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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AT issacthomasgregor schwartzjampelsyndrome
AT gayathrin schwartzjampelsyndrome
AT shivaramsumanth schwartzjampelsyndrome

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