GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants – p.Val139Met and p.Arg215Trp. In both the families, neuro...

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Detalles Bibliográficos
Autores principales: Kovale, Sabine, Terauda, Ruta, Millere, Elina, Taurina, Gita, Murmane, Daiga, Isakova, Jekaterina, Kenina, Viktorija, Gailite, Linda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Case Series – General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299378/
https://www.ncbi.nlm.nih.gov/pubmed/34326750
http://dx.doi.org/10.1159/000515170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299378/
https://www.ncbi.nlm.nih.gov/pubmed/34326750
http://dx.doi.org/10.1159/000515170

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