Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1

摘要

Background:Few genes responsible for distal arthrogryposis type 1 are known, although genes coding for the proteins in the sarcomere have been implicated in other types of distal arthrogryposis. Cost-effective sequencing methods are now available to examine all genes in the human genome for the purpose of establishing the genetic basis of musculoskeletal disorders.