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...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2018
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Article
Acesso em linha: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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