Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene

The SCN9A gene encodes a voltage gated sodium channel Nav1.7 in which mutations can result in a wide variety of phenotypes ranging from congenital insensitivity to pain to small fiber neuropathy. We report the genotype phenotype analysis in a family carrying a specific mutation, I1739V, in the SCN9A...

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Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Grewal, Raji P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Further Section
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251454/
https://www.ncbi.nlm.nih.gov/pubmed/35949357
http://dx.doi.org/10.1159/000513561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251454/
https://www.ncbi.nlm.nih.gov/pubmed/35949357
http://dx.doi.org/10.1159/000513561

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