Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

被引：206
作者：
Lemmers, RJLF
de Kievit, P
Sandkuijl, L
Padberg, GW
van Ommen, GJB
Frants, RR
van der Maarel, SM
机构：
[1] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Human Genet, NL-2333 AL Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Med Stat, Leiden, Netherlands
[3] Univ Med Ctr Nijmegen, Dept Neurol, Nijmegen, Netherlands
来源：
NATURE GENETICS | 2002年 / 32卷 / 02期
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1038/ng999
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.
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收藏
页码：235 / 236
页数：2
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