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.
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| Format: | Online |
| Language: | English |
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Medknow Publications & Media Pvt Ltd
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/ |
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pubmed-4489067 |
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oai_dc |
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pubmed-44890672015-07-12 Schwartz–Jampel syndrome Chandra, Sadanandavalli Retnaswami Issac, Thomas Gregor Gayathri, N. Shivaram, Sumanth 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. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Chandra, Sadanandavalli Retnaswami Issac, Thomas Gregor Gayathri, N. Shivaram, Sumanth |
| spellingShingle |
Chandra, Sadanandavalli Retnaswami Issac, Thomas Gregor Gayathri, N. Shivaram, Sumanth Schwartz–Jampel syndrome |
| author_facet |
Chandra, Sadanandavalli Retnaswami Issac, Thomas Gregor Gayathri, N. Shivaram, Sumanth |
| author_sort |
Chandra, Sadanandavalli Retnaswami |
| title |
Schwartz–Jampel syndrome |
| title_short |
Schwartz–Jampel syndrome |
| title_full |
Schwartz–Jampel syndrome |
| title_fullStr |
Schwartz–Jampel syndrome |
| title_full_unstemmed |
Schwartz–Jampel syndrome |
| title_sort |
schwartz–jampel syndrome |
| 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. |
| publisher |
Medknow Publications & Media Pvt Ltd |
| publishDate |
2015 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/ |
| _version_ |
1613243005276258304 |