Congenital Myasthenic Syndrome
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...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2022-04-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.004 |
| _version_ | 1797369787619213312 |
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| author | WANG Wenqing ZHAO Yuying YAN Chuanzhu |
| author_facet | WANG Wenqing ZHAO Yuying YAN Chuanzhu |
| author_sort | WANG Wenqing |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T17:51:56Z |
| format | Article |
| id | doaj.art-33a6e9cddb2f4fed9302873314b69f48 |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-08T17:51:56Z |
| publishDate | 2022-04-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-33a6e9cddb2f4fed9302873314b69f482024-01-02T07:11:20ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012022-04-011211012110.12376/j.issn.2097-0501.2022.02.004Congenital Myasthenic SyndromeWANG WenqingZHAO YuyingYAN ChuanzhuCongenital 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.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.004congenital myasthenic syndromeneuromuscular junctionelectrophysiology |
| spellingShingle | WANG Wenqing ZHAO Yuying YAN Chuanzhu Congenital Myasthenic Syndrome 罕见病研究 congenital myasthenic syndrome neuromuscular junction electrophysiology |
| title | Congenital Myasthenic Syndrome |
| title_full | Congenital Myasthenic Syndrome |
| title_fullStr | Congenital Myasthenic Syndrome |
| title_full_unstemmed | Congenital Myasthenic Syndrome |
| title_short | Congenital Myasthenic Syndrome |
| title_sort | congenital myasthenic syndrome |
| topic | congenital myasthenic syndrome neuromuscular junction electrophysiology |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.004 |
| work_keys_str_mv | AT wangwenqing congenitalmyasthenicsyndrome AT zhaoyuying congenitalmyasthenicsyndrome AT yanchuanzhu congenitalmyasthenicsyndrome |