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

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

Abstract 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 u...

Full description

Bibliographic Details
Main Authors: Haitian Nan, Yunqing Wu, Shilei Cui, Houliang Sun, Jiawei Wang, Ying Li, Lingchao Meng, Takamura Nagasaka, Liyong Wu
Format: Article
Language:English
Published: BMC 2022-01-01
Series:BMC Neurology
Subjects:
Charcot-Marie-Tooth disease
Nondystrophic myotonia
PMP22
SCN4A
Case report
Online Access:https://doi.org/10.1186/s12883-021-02538-5

Internet

https://doi.org/10.1186/s12883-021-02538-5

Similar Items