Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Arthrogryposis
- Spinal Muscular Atrophy
- Early-Onset Hereditary Neuropathies
- Congenital Muscle Disorders
- Chapter 52 Congenital Myasthenic Syndromes
- Chapter 53 Congenital Muscular Dystrophies
- Chapter 54 Congenital Myopathies
- Chapter 55 Other Congenital Muscle Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 52 - Congenital Myasthenic Syndromes
from Congenital Muscle Disorders
Published online by Cambridge University Press: 07 August 2021
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Arthrogryposis
- Spinal Muscular Atrophy
- Early-Onset Hereditary Neuropathies
- Congenital Muscle Disorders
- Chapter 52 Congenital Myasthenic Syndromes
- Chapter 53 Congenital Muscular Dystrophies
- Chapter 54 Congenital Myopathies
- Chapter 55 Other Congenital Muscle Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of neuromuscular junction (NMJ; motor endplate) disorders, resulting from defects in one or more presynaptic, synaptic, and/or postsynaptic proteins. Affected proteins include those necessary for the development and maintenance of the NMJ, as well as neuromuscular transmission, and are the basis for classification of CMS (Figure 52.1; Table 52.1) [1].
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- Perinatal Neuropathology , pp. 313 - 316Publisher: Cambridge University PressPrint publication year: 2021