کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3079273 | 1189293 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome](/preview/png/3079273.png)
چکیده انگلیسی
Slow channel congenital myasthenic syndrome is caused by a genetically determined kinetic anomaly of the acetylcholine receptor at the neuromuscular junction leading to its prolonged open state. Patients typically present with fatigability and static weakness of neck, hand and finger extensors. The open-channel blockers fluoxetine and quinidine have been used as standard treatment, although the former is limited by its side effects. We describe a patient with a novel “de novo” mutation in the α subunit of acetylcholine receptor with clinical and electrophysiological hallmarks of the disease. The patient showed marked treatment response to fluoxetine as well as quinine, a stereoisomer of quinidine, expanding the treatment options for this hereditary disorder.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 23, Issue 7, July 2013, Pages 571-574
Journal: Neuromuscular Disorders - Volume 23, Issue 7, July 2013, Pages 571-574
نویسندگان
Anne-Kathrin Peyer, Angela Abicht, Karl Heinimann, Michael Sinnreich, Dirk Fischer,