title: Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
authors.affiliation: 1Departamento de Neurologia, Faculdade de MedicinaUniversidade de São Paulo,São Paulo,Brazil.
authors.forename: Osorio
authors.initials: O
authors.lastname: Abath Neto
authors.affiliation: 1Departamento de Neurologia, Faculdade de MedicinaUniversidade de São Paulo,São Paulo,Brazil.
authors.forename: Carlos Otto
authors.initials: CO
authors.lastname: Heise
authors.affiliation: 1Departamento de Neurologia, Faculdade de MedicinaUniversidade de São Paulo,São Paulo,Brazil.
authors.forename: Cristiane de Araújo Martins
authors.initials: CA
authors.lastname: Moreno
authors.affiliation: 1Departamento de Neurologia, Faculdade de MedicinaUniversidade de São Paulo,São Paulo,Brazil.
authors.forename: Eduardo de Paula
authors.initials: EP
authors.lastname: Estephan
authors.affiliation: 2Centre National de Génotypage,Institut de GénomiqueEvry,France.
authors.forename: Lilia
authors.initials: L
authors.lastname: Mesrob
authors.affiliation: 2Centre National de Génotypage,Institut de GénomiqueEvry,France.
authors.forename: Doris
authors.initials: D
authors.lastname: Lechner
authors.affiliation: 2Centre National de Génotypage,Institut de GénomiqueEvry,France.
authors.forename: Anne
authors.initials: A
authors.lastname: Boland
authors.affiliation: 2Centre National de Génotypage,Institut de GénomiqueEvry,France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Deleuze
authors.affiliation: 3Setor de Doenças Neuromusculares,Departamento de Neurologia,Universidade Federal de São PauloSão Paulo,Brazil.
authors.forename: Acary Souza Bulle
authors.initials: AS
authors.lastname: Oliveira
authors.affiliation: 1Departamento de Neurologia, Faculdade de MedicinaUniversidade de São Paulo,São Paulo,Brazil.
authors.forename: Umbertina Conti
authors.initials: UC
authors.lastname: Reed
authors.affiliation: 4Faculté de Médecine,Laboratoire de Diagnostic GénétiqueNouvel Hopital Civil,Strasbourg,France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Biancalana
authors.affiliation: 5Department of Translational Medicine and Neurogenetics,IGBMC,INSERM U964,CNRS UMR7104University of Strasbourg,Collège de France,Illkirch,France.
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
authors.affiliation: 6Departamento de NeurologiaFaculdade de Medicina,Universidade de São PauloAvenida Dr. Enéas de Carvalho Aguiar 2555 andar,sala 5131,Cerqueira Cesar05403-900,Sao Paulo,Brazil.
authors.forename: Edmar
authors.initials: E
authors.lastname: Zanoteli
mesh_terms: D002648:Child; D004558:Electric Stimulation; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics* / Q000503:physiopathology; D009431:Neural Conduction / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics*; D014459:Ulnar Nerve / Q000503:physiopathology
chemical_list: C523021:CHRNA1 protein, human; D011978:Receptors, Nicotinic
keywords: CHRNA1; Congenital myasthenic syndrome; Neuromuscular junction defect; Postsynaptic defect