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Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome
BACKGROUND: The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P(0)) mediates adhesion in the spiral wra...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861067/ https://www.ncbi.nlm.nih.gov/pubmed/20385006 http://dx.doi.org/10.1186/1756-0500-3-99 |