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Journals
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
Open Access
A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
P Karimzadeh
P Karimzadeh
,
S Parvizi Omran
S Parvizi Omran
,
H Ghaedi
H Ghaedi
and
MD Omrani
MD Omrani
| Aug 28, 2019
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
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Article Category:
Case Report
Published Online:
Aug 28, 2019
Page range:
95 - 98
DOI:
https://doi.org/10.2478/bjmg-2019-0010
Keywords
Congenial myasthenic syndrome (CMS)
,
Neuromuscular junction
,
gene
© 2019 Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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.