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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 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- …