title: Congenital myasthenic syndromes and transient myasthenia gravis.
abstract: Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.
authors.affiliation: Department of Paediatrics, University of Szeged, Szeged. annagajd@gmail.com
authors.forename: Anna
authors.initials: A
authors.lastname: Gajda
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Szabó
authors.forename: Gyurgyinka
authors.initials: G
authors.lastname: Gergev
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
authors.forename: Nóra
authors.initials: N
authors.lastname: Szabó
authors.forename: Emoke
authors.initials: E
authors.lastname: Endreffy
authors.forename: Sándor
authors.initials: S
authors.lastname: Túri
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
mesh_terms: D002648:Child; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood*; D007223:Infant; D007361:Intelligence Tests; D020941:Myasthenia Gravis, Neonatal / Q000175:diagnosis* / Q000188:drug therapy / Q000276:immunology*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D009483:Neuropsychological Tests; D011802:Quinidine / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D002800:Cholinesterase Inhibitors; D007074:Immunoglobulin G; D011802:Quinidine