Review
Aug 2026
Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort.
The results highlight the major contribution of a limited number of genes and underscore the importance of early molecular diagnosis in a population with high consanguinity and underscore the importance of early molecular diagnosis in a population with high consanguinity.
Canan Üstün, Ipek Polat, Gülten Öztürk et al.
· Neuromuscular Disorders · 0 citations