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TRPV4-mediated channelopathies.
Verma P, Kumar A, Goswami C. Verma P, et al. Channels (Austin). 2010 Jul-Aug;4(4):319-28. doi: 10.4161/chan.4.4.12905. Epub 2010 Jul 6. Channels (Austin). 2010. PMID: 20676052 Free article. Review.
Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene can results in genetic disorders like Brachyolmia, Charcot-Marie-Tooth disease type 2C, Spinal Musc …
Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene c …
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
Chen H, Sun C, Zheng Y, Yin J, Gao M, Zhao C, Lin J. Chen H, et al. BMC Neurol. 2023 Jun 30;23(1):250. doi: 10.1186/s12883-023-03260-0. BMC Neurol. 2023. PMID: 37391745 Free PMC article. Review.
Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome, whereas his 27-year-ol …
Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot- …