Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

Using exome sequencing, we identified a de novo mutation (c.2971 A>G; T991 A) in SLC12A6, the gene encoding the K(+)-Cl(-) cotransporter KCC3, in a patient with an early-onset, progressive, and severe peripheral neuropathy primarily affecting motor neurons. Normally, the WNK kinase—dependent phos...

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Publicat a:Sci Signal
Autors principals: Kahle, Kristopher T., Flores, Bianca, Bharucha-Goebel, Diana, Zhang, Jinwei, Donkervoort, Sandra, Hegde, Madhuri, Begum, Gulnaz, Duran, Daniel, Liang, Bo, Sun, Dandan, Bönnemann, Carsten G., Delpire, Eric
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5506493/
https://ncbi.nlm.nih.gov/pubmed/27485015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scisignal.aae0546
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