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