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Article

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

Annals of clinical and translational neurology - 1 Mar 2022

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

Abstract excerpt

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 that include elements of both neuromuscular and skeletal disease. We sought to define the genetic and clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35170874
DOI: 10.1002/acn3.51523
PMCID: PMC8935273

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