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- Publisher
- American Medical Association
- Copyright
- Copyright 2008 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
- ISSN
- 2168-6149
- eISSN
- 2168-6157
- DOI
- 10.1001/archneur.65.8.1083
- pmid
- 18695058
- Publisher site
- See Article on Publisher Site
Abstract
ORIGINAL CONTRIBUTION Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally Homa Tajsharghi, PhD; Eva Kimber, MD; Anna-Karin Kroksmark, PhD; Ragnar Jerre, MD; Mar Tulinius, MD, PhD; Anders Oldfors, MD, PhD Background: Myosin is a molecular motor and the es- biopsy specimens were obtained, and in addition to mor- sential part of the thick filament of striated muscle. The phologic analysis, the expression of MyHC isoforms was expression of myosin heavy-chain (MyHC) isoforms is investigated at the protein and transcript levels. developmentally regulated. The embryonic isoform en- Results: We identified patients from 3 families with novel coded from MYH3 (OMIM *160720) is expressed dur- MYH3 mutations. These mutations affect developmen- ing fetal life. Recently, mutations in MYH3 were demon- tally conserved residues that are located in different re- strated to be associated with congenital joint contractures, gions of the adenosine triphosphate–binding pocket of that is, Freeman-Sheldon and Sheldon-Hall syndromes, the MyHC head. The embryonic (MYH3) isoform was not which are both distal arthrogryposis syndromes. Muta- detected in any of the muscle biopsy samples, indicat- tions in other MyHC isoforms cause myopathy. It is un- ing a normal developmental downregulation of MYH3 in known whether
Journal
JAMA Neurology – American Medical Association
Published: Aug 1, 2008