Clinical and Neuroimaging Features in Charcot–Marie–Tooth Patients with GNB4 Mutations

Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the GNB4 gene cause dominant intermediate CMT type F (CMTDIF). The aim of this study is to investigate phenotypic heterogeneities and characteristics of CMT patients with GNB4 mutations. We enrolled 11...

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Autores principales: Kwon, Hye Mi, Kim, Hyun Su, Kim, Sang Beom, Park, Jae Hong, Nam, Da Eun, Lee, Ah Jin, Nam, Soo Hyun, Hwang, Soohyun, Chung, Ki Wha, Choi, Byung-Ok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227704/
https://www.ncbi.nlm.nih.gov/pubmed/34071515
http://dx.doi.org/10.3390/life11060494

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