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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...

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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

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