THE CLINICAL, GENETIC AND DYSTROPHIN CHARACTERISTICS OF BECKER MUSCULAR-DYSTROPHY .2. CORRELATION OF PHENOTYPE WITH GENETIC AND PROTEIN ABNORMALITIES
THE CLINICAL, GENETIC AND DYSTROPHIN CHARACTERISTICS OF BECKER MUSCULAR-DYSTROPHY .2. CORRELATION OF PHENOTYPE WITH GENETIC AND PROTEIN ABNORMALITIES
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DOI：
10.1007/bf00858726
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发表时间：
1993-02-01
影响因子：
6
通讯作者：
BHATTACHARYA, SS
中科院分区：
文献类型：
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作者：
BUSHBY, KMD;GARDNERMEDWIN, D;BHATTACHARYA, SS
抽象。我们对67例经证实的贝克肌营养不良症患者进行了详细的临床评估，并将其与遗传和蛋白质分析结果进行了相关性分析。总体缺失频率为80%，在临床上定义为“典型”轻度严重程度的大组患者中上升至92.6%。该组中的缺失都集中在外显子45和59之间的基因区域;最常见的缺失是外显子45-47，除一个外，所有缺失都始于外显子45。在更严重的疾病患者中没有看到类似的缺失，其中多种遗传缺陷包括重复和非常大的缺失。“典型”组中的肌营养不良蛋白模式也非常具有特征性，两组中的肌营养不良蛋白模式都与遗传缺陷预测的一样，缺失的大小与产生的蛋白质大小成反比。
Abstract. We have correlated a detailed clinical assessment of 67 patients with proven Becker muscular dystrophy with the results from genetic and protein analyses. There was an overall deletion frequency of 80%, rising to 92.6% in the large group of patients defined on clinical grounds as being of ''typically'' mild severity. The deletions in this group were all clustered in the region of the gene between exons 45 and 59; the most common deletion was of exons 45-47 and all but one started at exon 45. No similar deletions were seen in the patients with more severe disease, in whom the diverse genetic defects included a duplication and a very large deletion. Dystrophin patterns in the ''typical'' group were also very characteristic, and in both groups were as predicted from the genetic defect, the size of deletions being inversely proportional to the size of the protein produced.