VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
Yıldırım M, Yarenci GB, Genç MB, Uçar Çİ, Bayav S, Tekin MN, Bektaş Ö, Teber S.
Yıldırım M, et al.
Neuropediatrics. 2024 Jun;55(3):200-204. doi: 10.1055/s-0044-1782675. Epub 2024 Mar 26.
Neuropediatrics. 2024.
PMID: 38531369
Review.
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on …
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous muta …