Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.

Gül Mert, Gülen; Özcan, Neslihan; Hergüner, Özlem; Altunbasak, Sakir; Incecik, Faruk; Bisgin, Atil; Ceylaner, Serdar

Gül Mert, Gülen; Özcan, Neslihan; Hergüner, Özlem; Altunbasak, Sakir; Incecik, Faruk; Bisgin, Atil; Ceylaner, Serdar.

Afiliación

Gül Mert G; Department of Pediatrics, Division of Pediatric Neurology, Cukurova University, Adana, Turkey. dr_gulen@hotmail.com.
Özcan N; Department of Pediatrics, Division of Pediatric Neurology, Cukurova University, Adana, Turkey.
Hergüner Ö; Department of Pediatrics, Division of Pediatric Neurology, Cukurova University, Adana, Turkey.
Altunbasak S; Department of Pediatrics, Division of Pediatric Neurology, Cukurova University, Adana, Turkey.
Incecik F; Department of Pediatrics, Division of Pediatric Neurology, Cukurova University, Adana, Turkey.
Bisgin A; Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana, Turkey.
Ceylaner S; Intergen Genetic Laboratory, Ankara, Turkey.

Acta Neurol Belg ; 121(2): 529-534, 2021 Apr.

Article en En | MEDLINE | ID: mdl-31773638

Asunto(s)

Síndromes Miasténicos Congénitos/diagnóstico; Síndromes Miasténicos Congénitos/genética; Adolescente; Agonistas Adrenérgicos beta/uso terapéutico; Niño; Preescolar; Femenino; Estudios de Seguimiento; Humanos; Masculino; Síndromes Miasténicos Congénitos/tratamiento farmacológico; Estudios Retrospectivos; Factores de Tiempo; Turquía

Palabras clave

CHRNE; COLQ; Congenital myasthenic syndromes; Neuromuscular junction

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Acta Neurol Belg Año: 2021 Tipo del documento: Article País de afiliación: Turquía

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