| Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome. | |
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MedLine Citation:
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PMID: 19289695 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital myasthenic syndromes are a genetically and phenotypically heterogeneous group of hereditary disorders affecting neuromuscular junction. Mutations in the gene encoding choline acetyltransferase cause presynaptic defects. The missense mutation I336T has been identified in Turkish population, and most of the cases carrying this mutation present with exercise-induced fatigability and ptosis. Although apneic attacks occur in these cases during febrile illness in childhood, the number of reported respiratory distress episodes during infancy is scarce. Another important feature of these cases is that response to esterase inhibitors is satisfactory. We present a case of congenital myasthenic syndrome with I336T choline acetyltransferase mutation who presented with numerous attacks of respiratory distress in the infancy period. Interestingly, the patient had myopathic findings on electromyography and diazepam decreased severity of apneic attacks. There was also no improvement with esterase inhibitors. |
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Authors:
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Uluç Yis; Semra Hiz Kurul; Ibrahim Oztura; Omer Ozden; Gülçin Akinci; Eray Dirik |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-03-16 |
Journal Detail:
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Title: Journal of child neurology Volume: 24 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2009 Jul |
Date Detail:
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Created Date: 2009-07-20 Completed Date: 2009-10-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 895-8 Citation Subset: IM |
Affiliation:
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Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey. ulyis@yahoo.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Blepharoptosis
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diagnosis,
drug therapy,
genetics Choline O-Acetyltransferase / genetics* Diazepam / therapeutic use* Electromyography Female Humans Hypnotics and Sedatives / therapeutic use* Infant Mutation, Missense Myasthenic Syndromes, Congenital / diagnosis, drug therapy*, genetics Respiratory Insufficiency / diagnosis, drug therapy*, genetics Sequence Analysis, DNA Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/Hypnotics and Sedatives; 439-14-5/Diazepam; EC 2.3.1.6/Choline O-Acetyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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