Oculopharyngeal muscular dystrophy (OPMD) - Report and genetic studies of an Australian kindred

被引：0

作者：

Teh, BT ^{[1
]}

Sullivan, AA ^{[1
]}

Farnebo, F ^{[1
]}

Zander, C ^{[1
]}

Li, FY ^{[1
]}

Strachan, N ^{[1
]}

Schalling, M ^{[1
]}

Larsson, C ^{[1
]}

Sandstrom, P ^{[1
]}

机构：

[1] PRINCESS ALEXANDRA HOSP, LIONS HUMAN IMMUNOL LABS, BRISBANE, QLD 4102, AUSTRALIA

来源：

CLINICAL GENETICS | 1997年 / 51卷 / 01期

关键词：

chromosome; 14; linkage analysis; oculopharyngeal muscular dystrophy (OPMD); repeat expansion;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant disease. Due to a founder effect, it is most commonly found in the French Canadian population. The gene has recently been mapped to chromosome 14q11.2-q13 in some of these families. Here we report an Australian kindred of German descent with OPMD. Linkage analysis supports its focus to chromosome 14q. Repeat expansion studies were also carried out, but a CAG trinucleotide repeat expansion detected did not cosegregate with the disease. We conclude that there is no evidence of genetic heterogeneity or involvement of repeat expansion in OPMD.

引用

页码：52 / 55

页数：4

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