TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

OBJECTIVE: To improve understanding of TRPV4-associated axonal Charcot-Marie-Tooth (CMT) neuropathy phenotypes and their debated pathologic mechanism. METHODS: A total of 17 CMT2C phenotypic families with vocal cord and diaphragmatic involvement and 36 clinically undifferentiated CMT2 subjects under...

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Détails bibliographiques
Auteurs principaux: Klein, C.J., Shi, Y., Fecto, F., Donaghy, M., Nicholson, G., McEntagart, M.E., Crosby, A.H., Wu, Y., Lou, H., McEvoy, K.M., Siddique, T., Deng, H.-X., Dyck, P.J.
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2011
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3059145/
https://ncbi.nlm.nih.gov/pubmed/21288981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31820f2de3
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