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De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result fro...

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Detalles Bibliográficos
Autores principales:	Jaber, Dana, Gitiaux, Cyril, Blesson, Sophie, Marguet, Florent, Buard, David, Varela Salgado, Maritzaida, Kaminska, Anna, Saada, Julien, Fallet-Bianco, Catherine, Martinovic, Jelena, Laquerriere, Annie, Melki, Judith
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2021
Materias:	Neurogenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551978/ https://www.ncbi.nlm.nih.gov/pubmed/32928894 http://dx.doi.org/10.1136/jmedgenet-2020-107166

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