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
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
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].
- Type
- Chapter
- Information
- Perinatal Neuropathology , pp. 313 - 316Publisher: Cambridge University PressPrint publication year: 2021
References
Cruz, PMR, Palace, J, Beeson, D. The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes. Int J Mol Sci 2018; 19(6): 1677.Google Scholar
Abicht, A, Müller, J, Lochmüller, H. Congenital myasthenic syndromes. In: Adam, MP, Ardinger, HH, Pagon, RA, et al., editors., GeneReviews® [Internet]. Seattle: University of Washington; 1993–2019 (last updated July 14, 2016).Google Scholar
Engel, AG, Shen, X-M, Selcen, D, Sine, SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 2016;14(4):420–34.Google Scholar
Engel, AG, Shen X-M, Selcen D. The unfolding landscape of the congenital myasthenic syndromes. Ann N Y Acad Sci. 2018;1413(1):25–34.Google Scholar
Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S; UCLA Clinical Genomics Center. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. Neurol Genet. 2020;6(4):e468.Google Scholar