Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions
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DOI：
10.1212/01.wnl.0000208513.48550.08
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发表时间：
2006-04-25
期刊：
影响因子：
9.9
通讯作者：
Mathieu, J
中科院分区：
文献类型：
--
作者：
Arsenault, ME;Prévost, C;Mathieu, J
强直性肌营养不良1型（DM 1）是最常见的成人形式的肌营养不良症。这种常染色体显性遗传疾病是由19q13.3处的营养不良性肌强直蛋白激酶基因3'非翻译区中不稳定的胞嘧啶、胸腺嘧啶、鸟嘌呤（CTG）重复扩增引起的。(1)CTG重复数在正常受试者中的范围在5和37之间，而在DM 1患者中，它增加到数千个单位。一般来说，循环白细胞中CTG重复扩增较大的患者发病年龄较早，症状较严重。(2-6)因此，CTG扩增的测量被认为是有价值的预后assessment.To进一步提高预测DM 1的DNA检测的预后评估的准确性，我们进行了基因型-表型相关性研究的基础上携带小CTG扩增的患者的临床结果。
Myotonic dystrophy type 1 (DM1) is the most common adult form of muscular dystrophy. This autosomal dominant disorder results from an unstable cytosine, thymine, guanine (CTG) repeat expansion in the 3' untranslated region of a dystrophia myotonia protein kinase gene at 19q13.3.(1) The CTG repeat number ranges between 5 and 37 in normal subjects, whereas in DM1 patients, it is increased up to several thousands units. As a general rule, patients with larger CTG repeat expansions in their circulating leukocytes have an earlier age at onset and more severe symptoms. (2-6) Measurement of the CTG amplification is therefore considered valuable for prognostic assessment.To further improve the accuracy of prognostic assessment in predictive DNA testing of DM1, we performed a genotype-phenotype correlation study based on the clinical findings in patients carrying small CTG expansions.