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Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

NEUROMUSCULAR DISORDERS(1998)

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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.
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关键词
Miyoshi-type distal muscular dystrophy,genetic heterogeneity,linkage-analysis,chromosome 2p12-14,genome wide screen,chromosome 10
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