کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6284033 | 1296661 | 2012 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis](/preview/png/6284033.png)
چکیده انگلیسی
⺠Mutations of Na channel are known to be responsible for myotonia and myasthenia. ⺠A patient with non-dystrophic myotonia with acquired myasthenia was presented. ⺠A novel mutation G1292D was identified in the skeletal muscle Na channel. ⺠Consistently with myotonia, the mutant channel showed enhanced activation. ⺠Reduced use-dependent inactivation suggested opposing effect to myasthenia.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 519, Issue 1, 21 June 2012, Pages 67-72
Journal: Neuroscience Letters - Volume 519, Issue 1, 21 June 2012, Pages 67-72
نویسندگان
Yosuke Kokunai, Keigo Goto, Tomoya Kubota, Takaaki Fukuoka, Saburo Sakoda, Tohru Ibi, Manabu Doyu, Hideki Mochizuki, Ko Sahashi, Masanori P. Takahashi,