Publications

Beck AE et al.Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 2014;164A(11):2808-13. PMID: 25256237.

Beck AE et al.Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A. 2013;161A(3):550-5. PMID: 23401156.

Cameron-Christie SR et al.Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. Am J Hum Genet. 2018;102(6):1115-1125. PMID: 29805041.

Carapito R et al.Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. Eur J Hum Genet. 2016;24(12):1746-1751. PMID: 27381093.

Chong JX et al.Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015;96(5):841-9. PMID: 25957469.

Hakonen AH et al.Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Am J Med Genet A. 2020;182(11):2605-2610. PMID: 32902138.

Toydemir RM et al.Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009;4:11. PMID: 19309503.

Toydemir RM et al.Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006;38(5):561-5. PMID: 16642020

Publications describing the functional characterization of mutant MYH3:

Racca AW et al.The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.Hum Mol Genet. 2015;24(12):3348-58. PMID: 25740846.

Walklate J et al.The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.J Biol Chem. 2016;291(19):10318-31. PMID: 26945064.