NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

OBJECTIVE: To perform genotype–phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS: We performed whole-exome sequencing in a preterm neonate...

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Detalles Bibliográficos
Autores principales: Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803/
https://www.ncbi.nlm.nih.gov/pubmed/27558372
http://dx.doi.org/10.1212/WNL.0000000000003095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803/
https://www.ncbi.nlm.nih.gov/pubmed/27558372
http://dx.doi.org/10.1212/WNL.0000000000003095

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