Late presentations of congenital myasthenic syndromes: How many do we miss?

Garg, Nidhi; Yiannikas, Con; Hardy, Todd A; Belaya, Katsiaryna; Cheung, Jonathan; Beeson, David; Reddel, Stephen W

Garg, Nidhi; Yiannikas, Con; Hardy, Todd A; Belaya, Katsiaryna; Cheung, Jonathan; Beeson, David; Reddel, Stephen W.

Afiliação

Garg N; Neuroimmunology Clinic, Concord Hospital and University of Sydney, NSW, Australia.
Yiannikas C; Departments of Neurology and Molecular Medicine, University of Sydney, Concord Hospital, Sydney, New South Wales, 2139, Australia.
Hardy TA; Neuroimmunology Clinic, Concord Hospital and University of Sydney, NSW, Australia.
Belaya K; The Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Cheung J; The Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Beeson D; The Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Reddel SW; Neuroimmunology Clinic, Concord Hospital and University of Sydney, NSW, Australia. swreddel@sydneyneurology.com.au.

Muscle Nerve ; 54(4): 721-7, 2016 10.

Article em En | MEDLINE | ID: mdl-26910802

Assuntos

Síndromes Miastênicas Congênitas/diagnóstico; Síndromes Miastênicas Congênitas/fisiopatologia; Adolescente; Adulto; Criança; Diagnóstico Diferencial; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Síndromes Miastênicas Congênitas/genética; Adulto Jovem

Palavras-chave

CHRNA1; RAPSN; congenital myasthenic syndrome; genetics; myasthenia gravis; seronegative

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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