PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Charcot–Marie–Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a mediu...

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Bibliografiske detaljer
Main Authors: Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, Chrast, Roman
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2013
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983407/
https://ncbi.nlm.nih.gov/pubmed/23777631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt274
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