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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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Karger Publishers
2021-06-01
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| coleção: | Case Reports in Neurology |
| Assuntos: | |
| Acesso em linha: | https://www.karger.com/Article/FullText/515170 |
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