Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder

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• 作者：Ashok Kumar ; Sarita Agarwal ; ^{saritasgpgi@gmail.com} ; Divya Agarwal ; Shubha R. Phadke
• 关键词：CTG repeat ; DMPK gene ; Genetics ; Myotonic dystrophy type 1 (DM1) ; Triplet repeat disorder
• 刊名：Gene
• 出版年：2013
• 出版时间：15 June, 2013
• 年：2013
• 卷：522
• 期：2
• 页码：226-230
• 全文大小：398 K

文摘

Myotonic dystrophy is a progressive multisystem genetic disorder affecting about 1 in 8000 people worldwide. The unstable repeat expansions of (CTG)n or (CCTG)n in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy: (i) myotonic dystrophy type 1 (DM1) and (ii) myotonic dystrophy type 2 (DM2) respectively. There is currently no cure but supportive management helps equally to reduce the morbidity and mortality and patients need close follow up to pay attention to their clinical problems. This review will focus on the clinical features, molecular view and genetics, diagnosis and management of DM1.