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Rare among Rare: Phenotypes of Uncommon CMT Genotypes
(1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Other genes, such as BSCL2, M...
Autores principales: | Gentile, Luca, Russo, Massimo, Taioli, Federica, Ferrarini, Moreno, Aguennouz, M’Hammed, Rodolico, Carmelo, Toscano, Antonio, Fabrizi, Gian Maria, Mazzeo, Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699517/ https://www.ncbi.nlm.nih.gov/pubmed/34942918 http://dx.doi.org/10.3390/brainsci11121616 |
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