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Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
OBJECTIVE: To characterize 2 novel TRPV4 mutations in 2 unrelated families exhibiting the Charcot-Marie-Tooth disease type 2C (CMT2C) phenotype. METHODS: Direct CMT gene testing was performed on 2 unrelated families with CMT2C. A 4-fold symmetric tetramer model of human TRPV4 was generated to map th...
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| Pubblicato in: | Neurol Genet |
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| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4811381/ https://ncbi.nlm.nih.gov/pubmed/27066566 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000029 |
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