DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Klein, Andrea; Pitt, Matthew C; McHugh, John C; Niks, Erik H; Sewry, Caroline A; Phadke, Rahul; Feng, Lucy; Manzur, Adnan Y; Tirupathi, Sandya; Devile, Catherine; Jayawant, Sandeep; Finlayson, Sarah; Palace, Jacqueline; Muntoni, Francesco; Beeson, David; Robb, Stephanie A

Klein, Andrea; Pitt, Matthew C; McHugh, John C; Niks, Erik H; Sewry, Caroline A; Phadke, Rahul; Feng, Lucy; Manzur, Adnan Y; Tirupathi, Sandya; Devile, Catherine; Jayawant, Sandeep; Finlayson, Sarah; Palace, Jacqueline; Muntoni, Francesco; Beeson, David; Robb, Stephanie A.

Afiliación

Klein A; Department of Paediatric Neurology, University Children's Hospital, Zurich, Switzerland; Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK. Electronic address: andrea.klein@kispi.uzh.ch.

Neuromuscul Disord ; 23(11): 883-91, 2013 Nov.

Article en En | MEDLINE | ID: mdl-23831158

Asunto(s)

Proteínas Musculares/genética; Síndromes Miasténicos Congénitos/diagnóstico; Niño; Humanos; Síndromes Miasténicos Congénitos/genética

Palabras clave

Clinical features in childhood; Congential myasthenic syndrome; DOK7

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Proteínas Musculares Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2013 Tipo del documento: Article

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