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

Yıl 2010, Cilt: 2 Sayı: 4, 0 - , 21.08.2010

Nahin Hussaın

Öz

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.

Anahtar Kelimeler

Congenital myasthenic syndromes RAPSN mutation chronic stridor

Yıl 2010, Cilt: 2 Sayı: 4, 0 - , 21.08.2010

Nahin Hussaın

Öz

Toplam 0 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Reports
Yazarlar

Nahin Hussaın

Yayımlanma Tarihi 21 Ağustos 2010
Yayımlandığı Sayı Yıl 2010 Cilt: 2 Sayı: 4

Kaynak Göster

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 Hussaın N. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. Ağustos 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, sy. 4 (Ağustos 2010). https://doi.org/10.17334/jps.94897.
EndNote Hussaın N (01 Ağustos 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, c. 2, sy. 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 (Ağustos 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, c. 2, sy. 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).