A NOVEL c.973G>T MUTATION IN THE ε-SUBUNIT OF THE
ACETYLCHOLINE RECEPTOR CAUSING CONGENITAL
MYASTHENIC SYNDROME IN AN IRANIAN FAMILY
Karimzadeh P1,2, Parvizi Omran S3, Ghaedi H4, Omrani MD4,*
*Corresponding Author: Mir Davood Omrani, Ph.D., Department of Medical Genetics, Faculty of Medicine,
Shahid Beheshti University of Medical Sciences, Koodakyar Street, Daneshjoo Boulevard, Evin,
Chamran Highway, Tehran, Islamic Republic of Iran, 1985717443. E-mail: davood_omrani@sbmu.ac.ir
page: 95
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ACKNOWLEDGMENTS
We thank Dominic Donkor of Concordia University,
Montreal, Canada for been a part of the review process of
the manuscript. We would like to express our gratitude to
the patient and his parents for their cooperation.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
Funding. This study was supported by Shahid Beheshti
University of Medical Sciences, Tehran, Iran.
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