CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.

Freed, Amanda S; Schwarz, Anisha C; Brei, Brianna K; Clowes Candadai, Sarah V; Thies, Jenny; Mah, Jean K; Chabra, Shilpi; Wang, Leo; Innes, A Micheil; Bennett, James T

Freed, Amanda S; Schwarz, Anisha C; Brei, Brianna K; Clowes Candadai, Sarah V; Thies, Jenny; Mah, Jean K; Chabra, Shilpi; Wang, Leo; Innes, A Micheil; Bennett, James T.

Afiliación

Freed AS; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Schwarz AC; Department of Genetics, SCPMG, Panorama City, California, USA.
Brei BK; Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, USA.
Clowes Candadai SV; General & Neuromuscular Pediatric Neurology, Mary Bridge Children's Hospital, Tacoma, Washington, USA.
Thies J; Division of Neonatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Mah JK; Department of Neonatology, Children's Hospital & Medical Center, Omaha, Nebraska, USA.
Chabra S; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington, USA.
Wang L; Patient-Centered Laboratory Utilization Guidance Services (PLUGS), Seattle Children's Hospital, Seattle, Washington, USA.
Innes AM; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
Bennett JT; Department of Pediatrics, Section of Neurology, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Am J Med Genet A ; 185(3): 827-835, 2021 03.

Article en En | MEDLINE | ID: mdl-33296147

Asunto(s)

Anomalías Múltiples/genética; Anomalías Múltiples/patología; Mutación; Síndromes Miasténicos Congénitos/genética; Síndromes Miasténicos Congénitos/patología; Receptores Nicotínicos/genética; Adulto; Femenino; Humanos; Recién Nacido; Masculino; Linaje; Pronóstico; Estudios Retrospectivos

Palabras clave

acetylcholinesterase inhibitor; congenital myasthenia; neuromuscular junction; rapid exome sequencing

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Receptores Nicotínicos / Síndromes Miasténicos Congénitos / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google