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Anticipation in Myotonic Dystrophy: A Parental-Sex-Related Phenomenon

 

作者: A.L. López de Munain,   A. Blanco,   J.I. Emparanza,   J.F. Martí Massó,   A. Cobo,   B. Basauri,   L. Martorell,   M. Baiget,   J.M. Martínez Lage,  

 

期刊: Neuroepidemiology  （Karger Available online 1994）
卷期: Volume 13, issue 1-2  

页码: 75-78

 

ISSN:0251-5350

 

年代: 1994

 

DOI:10.1159/000110362

 

出版商: S. Karger AG

 

关键词: Myotonic dystrophy;Anticipation;Sex-related genetic effect

 

数据来源: Karger

 

摘要:

We report anticipation in an extensive sample of myotonic dystrophy (MyD) kindreds taken from an epidemiological survey recently conducted in Guipúzcoa, Spain. Analysis of the parent-child pairs ascertained showed a mean anticipation of 2.86 decades (range 0–6). Greater anticipation occurred when the transmissor parent was the mother. These results suggest a possible sex-related effect in the transmission of the MyD gene, and are in agreement with recent discoveries at the molecular lev

 

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