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TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function

OBJECTIVE: Distinct dominant mutations in the calcium‐permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evidence suggests that some patients develop mixed phenotypes th...

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Detalles Bibliográficos
Autores principales:	Taga, Arens, Peyton, Margo A., Goretzki, Benedikt, Gallagher, Thomas Q., Ritter, Ann, Harper, Amy, Crawford, Thomas O., Hellmich, Ute A., Sumner, Charlotte J., McCray, Brett A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8935273/ https://www.ncbi.nlm.nih.gov/pubmed/35170874 http://dx.doi.org/10.1002/acn3.51523

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