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Article

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

2 Jan 2010

Abstract excerpt

Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of the hands and feet for which few genes have been identified. Here we describe a five-generation family with DA1 segregating as an autosomal dominant disorder with complete penetrance. Genome-wide linkage analysis using Affymetrix GeneChip Mapping 10K data from 12 affected members of this family revealed a multipoint...

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PMID: 20045868
DOI: 10.1093/hmg/ddp587

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