Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Nav1.4 alpha subunit (SCN4A) gene underlie...

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Detalles Bibliográficos
Autores principales: Nan, Haitian, Wu, Yunqing, Cui, Shilei, Sun, Houliang, Wang, Jiawei, Li, Ying, Meng, Lingchao, Nagasaka, Takamura, Wu, Liyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740465/
https://www.ncbi.nlm.nih.gov/pubmed/34996390
http://dx.doi.org/10.1186/s12883-021-02538-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740465/
https://www.ncbi.nlm.nih.gov/pubmed/34996390
http://dx.doi.org/10.1186/s12883-021-02538-5

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