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...

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Detalles Bibliográficos
Autores principales: Gentile, Luca, Russo, Massimo, Taioli, Federica, Ferrarini, Moreno, Aguennouz, M’Hammed, Rodolico, Carmelo, Toscano, Antonio, Fabrizi, Gian Maria, Mazzeo, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
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

Internet

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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