Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening
复制标题
DMD 中的严重认知障碍：Dp71 亚型点突变筛查的明显临床证据
DOI：
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发表时间：
2000
影响因子：
5.2
通讯作者：
C. Moraine
中科院分区：
文献类型：
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作者：
M. Moizard;A. Toutain;D. Fournier;F. Berret;M. Raynaud;C. Billard;C. Andres;C. Moraine
Duchenne muscular dystrophy is associated with variable degrees of selective cognitive defect with lower scores for verbal intelligence and reading abilities. A number of findings have shown that rearrangements located in the second part of the gene seem to be preferentially associated with cognitive impairment. Several dystrophin transcripts are expressed in the brain. The more distal of them, Dp71, is predominant. We have carried out a mutational analysis of Dp 71 transcript in 12 DMD patients severely, mildly or not retarded, all without detectable deletion or duplication. We have detected five point mutations causing Dp 71 premature translation termination. All were found among the more severely mentally retarded patients of this group (VIQ < 50 and/or no reading acquisition).
肌营养不良聚糖：小鼠的大脑定位和染色体作图。
影响因子：
3.5
作者：
Górecki,DC;Derry,JM;Barnard,EA
通讯作者：
Barnard,EA