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A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family Cover

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
By: P Karimzadeh,  S Parvizi Omran,  H Ghaedi and  MD Omrani  
Open Access
|Aug 2019

Authors

P Karimzadeh

Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran
Department of Pediatric Neurology, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran

S Parvizi Omran

Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Islamic Republic of Iran

H Ghaedi

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran

MD Omrani

davood_omrani@sbmu.ac.ir

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran
DOI: https://doi.org/10.2478/bjmg-2019-0010 | Journal eISSN: 2199-5761
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Language: English
Page range: 95 - 98
Published on: Aug 28, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Congenial myasthenic syndrome (CMS),
Neuromuscular junction,
CHRNE gene
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 P Karimzadeh, S Parvizi Omran, H Ghaedi, MD Omrani, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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