Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

OBJECTIVE: To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). METHODS: The first family comprises individuals affected by dHMN type V, which lacks the cardinal clinical feature of vocal cord paralysis characteristi...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Neurol Genet
Päätekijät: Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E.S., Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blakely, Randy D., Chilton, John K., De Bleecker, Jan, Baets, Jonathan, Baple, Emma L., Walk, David, Crosby, Andrew H.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wolters Kluwer 2018
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5866402/
https://ncbi.nlm.nih.gov/pubmed/29582019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000222
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