Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain

We report an English kindred affected across 4 generations with a hereditary neuropathy associated with debilitating neuropathic pain as the main clinical feature. The principal finding on clinical examination was sensory loss, and there was variable motor dysfunction. Electrophysiological studies r...

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Detalles Bibliográficos
Autores principales: Ramirez, Juan D., Barnes, Phillip R.J., Mills, Kerry R., Bennett, David L.H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2012
Materias:
Clinical Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399778/
https://www.ncbi.nlm.nih.gov/pubmed/22704856
http://dx.doi.org/10.1016/j.pain.2012.05.015

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