Congenital Myasthenic Syndrome / 罕见病研究
JOURNAL OF RARE DISEASES
; (4): 110-121, 2022.
Article
en Zh
| WPRIM
| ID: wpr-1004991
Biblioteca responsable:
WPRO
ABSTRACT
Congenital Myasthenic syndrome (CMS) is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in recent years, more than thirty pathogenic genes have been discovered and there is a correlation between genotype and clinical phenotype.Misdiagnosis and missed diagnosis are common in clinical practice. This paper summarized the molecular mechanisms, clinical features, electrophysiologic, pathological features and treatment of main subtypes of CMS to deepen the understanding of the disease.
Texto completo:
1
Índice:
WPRIM
Idioma:
Zh
Revista:
JOURNAL OF RARE DISEASES
Año:
2022
Tipo del documento:
Article