Abstract | PURPOSE OF REVIEW: RECENT FINDINGS: SUMMARY: The characterization of congenital myasthenic syndromes comprises two complementary steps: establishing the diagnosis and identifying the pathophysiological type of congenital myasthenic syndrome. Characterization of the type of congenital myasthenic syndrome has allowed it to be classified as caused by presynaptic, synaptic and postsynaptic defects. A clinically and muscle histopathologically oriented genetic study has identified several genes in which mutations cause the disease. Despite comprehensive characterization, the phenotypic expression of one given gene involved is variable, and the aetiology of many congenital myasthenic syndromes remains to be discovered.
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Authors | Daniel Hantaï, Pascale Richard, Jeanine Koenig, Bruno Eymard |
Journal | Current opinion in neurology
(Curr Opin Neurol)
Vol. 17
Issue 5
Pg. 539-51
(Oct 2004)
ISSN: 1350-7540 [Print] England |
PMID | 15367858
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
- Muscle Proteins
- peripheral membrane protein 43K
- Acetylcholinesterase
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Topics |
- Acetylcholinesterase
(deficiency)
- Animals
- Genotype
- Humans
- Muscle Proteins
(genetics, metabolism)
- Mutation
- Myasthenic Syndromes, Congenital
(classification, diagnosis, genetics, physiopathology)
- Neuromuscular Junction
(physiology)
- Phenotype
- Prognosis
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