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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

P Karimzadeh

P Karimzadeh

  • Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
  • Department of Pediatric Neurology, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
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Karimzadeh, P
, 
S Parvizi Omran

S Parvizi Omran

Department of Biology, Damghan Branch, Islamic Azad UniversityDamghan, Islamic Republic of Iran
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Parvizi Omran, S
, 
H Ghaedi

H Ghaedi

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
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Ghaedi, H
 y 
MD Omrani

MD Omrani

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
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Omrani, MD
  
28 ago 2019
A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family's Cover Image
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Categoría del artículo: Case Report
Publicado en línea: 28 ago 2019
Páginas: 95 - 98
DOI: https://doi.org/10.2478/bjmg-2019-0010
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© 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).
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.
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2 veces al año
Temas de la revista:
Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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