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Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Detalles Bibliográficos
Autores principales:	Sloth, Christine K., Denti, Federico, Schmitt, Nicole, Bentzen, Bo Hjorth, Fagerberg, Christina, Vissing, John, Gaist, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2018
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167177/ https://www.ncbi.nlm.nih.gov/pubmed/30283817 http://dx.doi.org/10.1212/NXG.0000000000000267

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