کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1916138 | 1535202 | 2007 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Rippling muscle disease (RMD) is a rare form of myopathy that is characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients suffering from autosomal dominant RMD. We encountered a Korean male patient with RMD who had suffered from muscle stiffness for 3 years. Mutation analysis of the CAV3 gene revealed the patient to be heterozygous for a novel in-frame deletion mutation (c.307_312delGTGGTG; Phe103_Phe104del). Further analysis of his family members showed that his mother and elder sister also have the same mutation. To the best of our knowledge, this is the first report of genetically confirmed RMD in Korea.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 260, Issues 1–2, 15 September 2007, Pages 275–278
Journal: Journal of the Neurological Sciences - Volume 260, Issues 1–2, 15 September 2007, Pages 275–278
نویسندگان
Jong Seok Bae, Chang-Seok Ki, Jong-Won Kim, Yeon-Lim Suh, Min Soo Park, Byung Joon Kim, Sung-Jae Kim,