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Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation

Year 2010, Volume: 2 Issue: 4, 0 - , 21.08.2010

Nahin Hussaın

https://izlik.org/JA95SW64HZ

Abstract

The Congenital Myasthenic Syndromes (CMS) are a group of rare genetic disorders affecting neuromuscular transmission and often presents within first year of life. A high index of suspicion is usually required as clinical manifestations can be variable and non specific. RAPSN mutations are likely to be one of the common causes for CMS in patients of Indo-European ethnic origin. Clinical phenotype includes arthrogryposis, respiratory crises, transient torticollis at birth, facial deformities and weakness. Chronic stridor as an early manifestation of CMS has not been described before.

Keywords

Congenital myasthenic syndromes RAPSN mutation chronic stridor

Year 2010, Volume: 2 Issue: 4, 0 - , 21.08.2010

Nahin Hussaın

https://izlik.org/JA95SW64HZ

Abstract

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Details

Primary Language English
Authors

Nahin Hussaın

Publication Date August 21, 2010
DOI https://doi.org/10.17334/jps.94897
IZ https://izlik.org/JA95SW64HZ
Published in Issue Year 2010 Volume: 2 Issue: 4

Cite

APA Hussaın, N. (2010). Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences, 2(4). https://doi.org/10.17334/jps.94897
AMA 1.Hussaın N. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. 2010;2(4). doi:10.17334/jps.94897
Chicago Hussaın, Nahin. 2010. “Chronic Stridor As an Early Presentation of Congenital Myasthenic Syndrome Due to RAPSN Mutation”. Journal of Pediatric Sciences 2 (4). https://doi.org/10.17334/jps.94897.
EndNote Hussaın N (August 1, 2010) Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences 2 4
IEEE [1]N. Hussaın, “Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation”, Journal of Pediatric Sciences, vol. 2, no. 4, Aug. 2010, doi: 10.17334/jps.94897.
ISNAD Hussaın, Nahin. “Chronic Stridor As an Early Presentation of Congenital Myasthenic Syndrome Due to RAPSN Mutation”. Journal of Pediatric Sciences 2/4 (August 1, 2010). https://doi.org/10.17334/jps.94897.
JAMA 1.Hussaın N. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. 2010;2. doi:10.17334/jps.94897.
MLA Hussaın, Nahin. “Chronic Stridor As an Early Presentation of Congenital Myasthenic Syndrome Due to RAPSN Mutation”. Journal of Pediatric Sciences, vol. 2, no. 4, Aug. 2010, doi:10.17334/jps.94897.
Vancouver 1.Nahin Hussaın. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. 2010 Aug. 1;2(4). doi:10.17334/jps.94897