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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: ,  ,   and    
Open Access
|Aug 2019
Figures & tables

Figures & Tables

Figure 1

The photographs of the patient with bilateral ptosis (here he is 2 and a half years old).

Figure 2

(a) Pedigree of the family, electropherogram of sequences from exon 12 of CHRNE, (b) carrier parents; the case illustrating the c.973G>T of the CHRNE gene mutation.

DOI: https://doi.org/10.2478/bjmg-2019-0010 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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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
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.

Volume 22 (2019): Issue 1 (June 2019)
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