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Charcot–Marie–Tooth disease

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease il...

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Autores principales: Szigeti, Kinga, Lupski, James R
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947101/
https://ncbi.nlm.nih.gov/pubmed/19277060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.31
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