| 1 | AMCD2B, MYH3, SHHS, SHHS2, TNNI2, TNNT3, TPM2
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| A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
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| Xu Y, Kang QL, Zhang ZL.
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| Neuromuscul Disord 28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. 2018
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| 2 | MYH3, SHHS
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| A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
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| Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V.
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| Am J Med Genet A 176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5.
2018
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| 3 | MYH3, SCTS2
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| Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
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| Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludkig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.
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| Am J Hum Genet 102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24.
2018
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| 4 | MPTSA1, MYH3
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| Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
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| Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.
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| Am J Hum Genet 96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.
2015
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| 5 | FSS, MYH3
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| Genotype-phenotype relationships in Freeman-Sheldon syndrome.
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| Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ.
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| Am J Med Genet A 164A(11):2808-13. doi: 10.1002/ajmg.a.36762. Epub 2014 Sep 25.
2014
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| 6 | MYH3
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| Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart.
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| Rutland CS, Polo-Parada L, Ehler E, Alibhai A, Thorpe A, Suren S, Emes RD, Patel B, Loughna S.
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| Development 138(18):3955-66. doi: 10.1242/dev.059063.
2011
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| 7 | MYH3
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| Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
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| Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB.
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| J Bone Joint Surg Am 93(11):1045-50. doi: 10.2106/JBJS.J.02004.
2011
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| 8 | FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
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| Thick filament diseases.
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| Oldfors A, Lamont PJ.
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| Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
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| 9 | MYH3, SHHS
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| Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
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| Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A.
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| Arch Neurol 65(8):1083-90. Erratum in: Arch Neurol. 2008 Dec;65(12):1654. PMID: 18695058 2008
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| 10 | MYH2, MYH3, MYH7, MYH8
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| Hereditary myosin myopathies.
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| Oldfors A.
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| Neuromuscul Disord 17(5):355-67. Epub 2007 Apr 16. Review.PMID: 17434305 2007
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| 11 | SHHS, FSS, MYH3
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| Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.
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| Wagner LA, Mazarei G.
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| Clin Genet 70(3):192-3. 2006
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| 12 | FSS, MYH3, SHHS
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| Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
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| Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ.
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| Nat Genet 38(5):561-5. Epub 2006 Apr 16. 2006
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| 13 | MYBPH, MYH3
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| Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse.
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| Hundley AF, Yuan L, Visco AG.
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| Am J Obstet Gynecol 194(5):1404-10. Epub 2006 Mar 30.
2006
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| 14 | FSS, MYH3, SHHS
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| Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
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| Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.
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| Am J Hum Genet 72(3):681-90. 2003
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| 15 | MYH1, MYH2, MYH3, MYH4, MYH8, MYH13
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| Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved.
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| Weiss A, et al.
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| Proc Natl Acad Sci U S A 96(6):2958-2963. 1999
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| 16 | MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYH13
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| Organization of the human skeletal myosin heavy chain gene cluster.
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| Yoon SJ, et al.
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| Proc Natl Acad Sci U S A 89 : 12078-12082. 1992
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| 17 | MYH3
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| Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene.
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| Eller M, et al.
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| FEBS Lett 256 : 21-28. 1989
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| 18 | MYH1, MYH2, MYH3
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| Multigene family for sarcomeric myosin heavy chain in mouse and human DNA: Localization on a single chromosome.
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| Leinwand LA, et al.
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| Science 221 : 766-769. 1983
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