GENETIC AND CLINICAL CORRELATIONS OF XP21 MUSCULAR-DYSTROPHY
GENETIC AND CLINICAL CORRELATIONS OF XP21 MUSCULAR-DYSTROPHY
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DOI：
10.1007/bf01799614
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发表时间：
1992-01-01
影响因子：
4.2
通讯作者：
BUSHBY, KMD
中科院分区：
文献类型：
--
作者：
BUSHBY, KMD
我们调查了100多名Xp 21肌营养不良症患者，汇总了详细的临床、遗传和肌营养不良蛋白调查结果。证实了疾病严重程度的谱，最同质的临床组位于谱的两端，由典型的Duchenne和Becker表型代表。之间的组表现出临床异质性，以及遗传和肌营养不良蛋白结果的变异性。虽然与不可检测的抗肌萎缩蛋白相关的框外缺失最有可能预测最严重的表型，并且抗肌萎缩蛋白丰度的增加通常与较轻的临床病程相关，但抗肌萎缩蛋白丰度的值不能可靠地预测特定的表型。然而，涉及外显子45-47和45-48的抗肌萎缩蛋白基因的缺失似乎与最温和的Becker表型一致相关。其他因素必须在确定确切的临床过程中发挥作用。
We have investigated over 100 patients with Xp21 muscular dystrophy, drawing together the results of detailed clinical, genetic and dystrophin investigations. A spectrum of disease severity was confirmed, with the most homogeneous clinical groups being at either end of the spectrum, represented by the typical Duchenne and Becker phenotypes. The groups in between showed clinical heterogeneity, and variability in the genetic and dystrophin results. While an out-of-frame deletion in association with undetectable dystrophin is most likely to predict the most severe phenotype, and increasing abundance of dystrophin is associated generally with a milder clinical course, no value of dystrophin abundance reliably predicts a particular phenotype. However, deletions of the dystrophin gene involving exons 45-47 and 45-48 especially do seem to be consistently associated with the mildest Becker phenotype. Additional factors must play a role in determining the exact clinical course.