Myotonic Dystrophy Protein Kinase (DMPK) Gene Expression in Lymphocytes of Patients with Myotonic Dystrophy

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• 作者：Depardon ; Francisco ; Cisneros ; Bulmaro ; Alonso-Vilatela ; Elisa ; Montañ ; ez ; Cecilia
• 关键词：Coordinated expression ; MDPK gene ; Myotonic dystrophy ; Triplet repeats ; Downregulation
• 刊名：Archives of Medical Research
• 出版年：2001
• 出版时间：March - April, 2001
• 年：2001
• 卷：32
• 期：2
• 页码：123-128
• 全文大小：519 K

文摘

Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disorder with defects in many tissues, including skeletal muscle myotonia, progressive myopathy, and abnormalities in heart, brain, and endocrine systems. It is associated with a trinucleotide repeat occurring in the 3′ (UTR) untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Several studies have been carried out to determine DMPK gene expression in muscle and non-muscle tissues.