Phenotypic variability of TRPV4 related neuropathies

Phenotypic variability of TRPV4 related neuropathies

•2 novel heterozygous missense mutations in the TRPV4 gene.•Clinical, and muscle biopsy findings in two patients.•Description of an overlapping syndrome.•Muscle biopsy with basophilic inclusions.•Discussion about possible pathogenic mechanisms.

Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: Pergamon Press 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778/

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