Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.
- DOI
- 10.3389/fneur.2022.909715
- Published
- 2022-06-02
- Container
- Front Neurol
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3389/fneur.2022.909715,
title = {Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.},
author = {Gómez-García de la Banda M and Simental-Aldaba E and Fahmy N and Sternberg D and Blondy P and Quijano-Roy S and Malfatti E.},
year = {2022},
journal = {Front Neurol},
doi = {10.3389/fneur.2022.909715},
url = {https://doi.org/10.3389/fneur.2022.909715}
}RIS
TY - JOUR TI - Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings. AU - Gómez-García de la Banda M AU - Simental-Aldaba E AU - Fahmy N AU - Sternberg D AU - Blondy P AU - Quijano-Roy S AU - Malfatti E. PY - 2022 JO - Front Neurol DO - 10.3389/fneur.2022.909715 UR - https://doi.org/10.3389/fneur.2022.909715 ER -
APA
M, G. D. L. B., E, S., N, F., D, S., P, B., S, Q., & E., M. (2022). Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.. Front Neurol. https://doi.org/10.3389/fneur.2022.909715
Source records
- europe-pmc · retrieved 2026-09-26T22:39:26.201Z
- doaj · retrieved 2026-09-26T22:39:26.204Z