Mild phenotype of CHATassociated congenital myasthenic syndrome: case series.

Autor: Murtazina, Aysylu, Borovikov, Artem, Marakhonov, Andrey, Sharkov, Artem, Sharkova, Inna, Mirzoyan, Alena, Kulikova, Sviatlana, Ganieva, Ralina, Zabnenkova, Viktoriia, Ryzhkova, Oksana, Nikitin, Sergey, Dadali, Elena, Kutsev, Sergey

Publikováno v: Frontiers in Pediatrics; 2024, p1-8, 8p

Mild phenotype of CHAT -associated congenital myasthenic syndrome: case series.

Autor: Murtazina A; Research Centre for Medical Genetics, Moscow, Russia., Borovikov A; Research Centre for Medical Genetics, Moscow, Russia., Marakhonov A; Research Centre for Medical Genetics, Moscow, Russia., Sharkov A; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia.; Genomed Ltd., Moscow, Russia., Sharkova I; Research Centre for Medical Genetics, Moscow, Russia., Mirzoyan A; Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus., Kulikova S; Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus., Ganieva R; Research Centre for Medical Genetics, Moscow, Russia., Zabnenkova V; Research Centre for Medical Genetics, Moscow, Russia., Ryzhkova O; Research Centre for Medical Genetics, Moscow, Russia., Nikitin S; Research Centre for Medical Genetics, Moscow, Russia., Dadali E; Research Centre for Medical Genetics, Moscow, Russia., Kutsev S; Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2024 Jan 18; Vol. 12, pp. 1280394. Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2024).