Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood...

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Detalles Bibliográficos
Autores principales: Nozaki, Ichiro, Hashiguchi, Akihiro, Takashima, Hiroshi, Yamashita, Yoko, Higashide, Tomomi, Iwasa, Kazuo, Ono, Kenjiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641200/
https://www.ncbi.nlm.nih.gov/pubmed/36792185
http://dx.doi.org/10.2169/internalmedicine.1403-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641200/
https://www.ncbi.nlm.nih.gov/pubmed/36792185
http://dx.doi.org/10.2169/internalmedicine.1403-22

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