Phenotypic variability of TRPV4 related neuropathies

Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot–Marie–Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and sc...

Descripción completa

Detalles Bibliográficos
Autores principales: Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F., Lochmüller, Hanns, Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778/
https://www.ncbi.nlm.nih.gov/pubmed/25900305
http://dx.doi.org/10.1016/j.nmd.2015.03.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778/
https://www.ncbi.nlm.nih.gov/pubmed/25900305
http://dx.doi.org/10.1016/j.nmd.2015.03.007

Ejemplares similares