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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Neurol Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2018
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars