Congenital Myasthenic Syndrome

WANG Wenqing; ZHAO Yuying; YAN Chuanzhu

doi:10.12376/j.issn.2097-0501.2022.02.004

Journal of Rare Diseases > 2022 > 1(2): 110-121. > DOI: 10.12376/j.issn.2097-0501.2022.02.004

WANG Wenqing, ZHAO Yuying, YAN Chuanzhu. Congenital Myasthenic Syndrome[J]. Journal of Rare Diseases, 2022, 1(2): 110-121. DOI: 10.12376/j.issn.2097-0501.2022.02.004

Citation:

WANG Wenqing, ZHAO Yuying, YAN Chuanzhu. Congenital Myasthenic Syndrome[J]. Journal of Rare Diseases, 2022, 1(2): 110-121. DOI: 10.12376/j.issn.2097-0501.2022.02.004

Citation:

WANG Wenqing, ZHAO Yuying, YAN Chuanzhu. Congenital Myasthenic Syndrome[J]. Journal of Rare Diseases, 2022, 1(2): 110-121. DOI: 10.12376/j.issn.2097-0501.2022.02.004

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Congenital Myasthenic Syndrome

Department of Neurology, Shandong University Qilu Hosipital, Research Institute of Neuromuscular and Neurodegenerative Diseases, Jinan 250012, China

Funds:

General Program of National Natural Science Foundation of China 82071412

General Program of Shandong Natural Science Foundation ZR2021MH170

More Information

Corresponding author:
ZHAO Yuying, E-mail: zyy72@126.com
Received Date: March 09, 2022
Accepted Date: March 25, 2022
Available Online: June 01, 2022

Graphical Abstract

Abstract

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.
- congenital myasthenic syndrome,
- neuromuscular junction,
- electrophysiology

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References (54)

References

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