A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy...
| Autores principales: | , , , , , , |
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| Formato: | Online |
| Idioma: | eng |
| Publicado: |
Universidad de Costa Rica
2014
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| Acceso en línea: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/13473 |