Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

被引：41

作者：

Linssen, WHJP

de Visser, M

Notermans, NC

Vreyling, JP

Van Doorn, PA

Wokke, JHJ

Baas, F

Bolhuis, PA

机构：

[1] St Lucas Andreas Hosp, Dept Neurol, NL-1006 AE Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands

[3] Acad Hosp, Dept Neuromuscular Dis, Utrecht, Netherlands

[4] Acad Hosp Dijkzigt, Dept Neurol, NL-3000 DR Rotterdam, Netherlands

来源：

NEUROMUSCULAR DISORDERS | 1998年 / 8卷 / 05期

关键词：

Miyoshi-type distal muscular dystrophy; genetic heterogeneity; linkage-analysis; chromosome; 2p12-14; genome wide screen; 10;

D O I：

10.1016/S0960-8966(98)00020-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show non-linkage to the region spanned by D2S 134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD. (C) 1998 Elsevier Science B.V. All rights reserved.

引用

页码：317 / 320

页数：4

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