A Rare Phenotype of Uncommon Charcot–Marie–Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography

The pathogenesis of Charcot–Marie–Tooth (CMT) disease, an inherited peripheral neuropathy, is associated with more than 60 nuclear genes. We reported a rare phenotype of the uncommon CMT genotype complicated with neuroinflammation, that is, an MPZ mutation, NC_000001.11 (NM_000530.6): c.308G > C...

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Detalles Bibliográficos
Autores principales: Su, Xiaoyun, Kong, Xiangquan, Lu, Zuneng, Wang, Lixia, Zheng, Chuansheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302481/
https://www.ncbi.nlm.nih.gov/pubmed/35873478
http://dx.doi.org/10.3389/fgene.2022.873641

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302481/
https://www.ncbi.nlm.nih.gov/pubmed/35873478
http://dx.doi.org/10.3389/fgene.2022.873641

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