Presynaptic congenital myasthenic syndrome due to quantal release deficiency

Neurology

Volumn 57, Issue 2, 2001, Pages 279-289

  Maselli, Ricardo A ^a   Kong, D Z ^a   Bowe, C M ^a   McDonald, C M ^a   Ellis, W G ^a   Agius, M A ^a   Gomez, C M ^b   Richman, D P ^a   Wollmann, R L ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; NEUROTRANSMITTER; RECEPTOR SUBUNIT;

ACTION POTENTIAL; ADOLESCENT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENDPLATE POTENTIAL; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTRACELLULAR RECORDING; MALE; MUSCLE BIOPSY; MYASTHENIA GRAVIS; NERVE ENDING; NEUROMUSCULAR SYNAPSE; NEUROTRANSMITTER RELEASE; NYSTAGMUS; PRIORITY JOURNAL; SCHOOL CHILD; SYNAPSE VESICLE; ULTRASTRUCTURE;

EID: 0035943059     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.2.279     Document Type: Article

References (39)

1. Recently recognized congenital myasthenic syndromes: (A) End-plate acetylcholine (Ach) esterase deficiency. (B) Putative abnormality of the Ach induced ion channel. (C) Putative defect of Ach resynthesis or mobilization. Clinical features, ultrastructure and cytochemistry
2. Synaptic vesicle abnormality in familial infantile myasthenia
3. Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release
4. Abnormal neuromuscular transmission in an infantile myasthenic syndrome
5. Congenital Lambert-Eaton myasthenic syndrome
6. Inflammation at the neuromuscular junction in myasthenia gravis
7. Neuromuscular transmission in amyotrophic lateral sclerosis
8. Induction of the morphologic changes of both acute and chronic myasthenias by monoclonal antibody directed against acetylcholine receptor
9. Histometric analysis of the ultrastructure of the neuromuscular junction in myasthenia gravis and the myasthenia syndrome
10. 2+ channel gene CACNL1A4
11. Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor
12. Primary structure of the human muscle acetylcholine receptor cDNA cloning of the gamma and epsilon subunits
13. Nucleotide sequence of human muscle acetylcholine receptor beta subunit
14. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia 2
15. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansion in the α1A-voltage-dependent calcium channel
16. Congenital myasthenic syndromes
17. The effects of nerve stimulation and hemicholinium on synaptic vesicles at the mammalian neuromuscular junction
18. A new myasthenic syndrome with end-plate acetylcholine deficiency, small nerve terminals, and reduced acetylcholine release
19. Analysis of the organophosphate-induced electromyographic response to repetitive nerve stimulation: Amyotrophic lateral sclerosis
20. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
21. The upregulation of acetylcholine release at endplates of α-bungarotoxin-treated rats: Its dependency on calcium
22. 2+ calmodulin-dependent protein kinase II
23. Ultrastuctural distribution of synaptophysin and synaptic vesicle recycling at the frog neuromuscular junction
24. Changes in the fine structure of the neuromuscular junction of the frog caused by black widow spider venom
25. Synaptic vesicle endocytosis
26. Molecular mechanisms in synaptic vesicle endocytosis and recycling
27. A role of amphiphysin in synaptic vesicle endocytosis suggested by its binding to dynamin in nerve terminals
28. Defective recycling of synaptic vesicles in synaptotagmin mutants of caenorhabditis elegans
29. Synaptic transmission deficits in caenorhabditis elegans synaptobrevin mutants
30. Mammalian homologues of Caenorhabditis elegans unc-13 gene define novel family of C2-domain proteins
31. Regulated vesicular fusion in neurons: Snapping together the details
32. Botulinum neurotoxin A selectively cleaves the synaptic protein SNAP25
33. Tetanus and botulism neurotoxins: A new group of zinc proteases
34. Distinct requirements for evoked and spontaneous release of neurotransmitter are revealed by mutations in the Drosophila gene neuronal-synaptobrevin
35. Genetic and electro-physiological studies of Drosophila syntaxin-1A demonstrate its role in nonneuronal secretion and neurotransmission
36. Cluster of wound botulism in California: Clinical, electrophysiologic, and pathologic study
37. Distinct sites of action of clostridial neurotoxins revealed by double-poisoning of mouse motor nerve terminals
38. In vitro microelectrode study of neuromuscular transmission in a case of botulism
39. Calcium channel blockers and transmitter release at the normal human neuromuscular junction