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Clinical Features of a Newly Described Mutation of Myelin Protein Zero in a Family
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy. Duplication of the peripheral myelin protein-22 (PMP22) gene is the most frequent genetic abnormality in CMT disease. Although rare compared to PMP22 gene mutations, many different myelin protein zero (MPZ) gene mutations ha...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315180/ https://www.ncbi.nlm.nih.gov/pubmed/37404437 http://dx.doi.org/10.7759/cureus.39884 |