Have a personal or library account? Click to login
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

Figures & Tables

Figure 1

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

Previous articleVolume 22 (2019): Issue 1 (June 2019)