[1] | Foth BJ, Goedecke MC, Soldati D. New insights into myosin evolution and classification. Proc Natl Acad Sci USA, 2006, 103(10): 3681-3686. | [2] | Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta, 2000, 1496(1): 3-22. | [3] | Clark KA, McElhinny AS, Beckerle MC, Gregorio CC. Striated muscle cytoarchitecture: an intricate web of form and function. Annu Rev Cell Dev Biol, 2002, 18: 637-706. | [4] | Willis T, Hedberg-Oldfors C, Alhaswani Z, Kulshrestha R, Sewry C, Oldfors A. A novel.MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. J Neurol, 2016, 263(7): 1427-1433. | [5] | Colegrave M, Peckham M. Structural implications of β-cardiac myosin heavy chain mutations in human disease. Anat Rec (Hoboken), 2014, 297(9): 1670-1680. | [6] | Eichel Y, Tormos LM, Squires JE. Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature. Transfusion, 2016, 56(2): 349-353. | [7] | Schiaffino S, Reggiani C. Fiber types in mammalian skeletal muscles. Physiol Rev, 2011, 91(4): 1447-1531. | [8] | Pedrosa-Domell?f F, Holmgren Y, Lucas CA, Hoh JFY, Thornell LE. Human extraocular muscles: unique pattern of myosin heavy chain expression during myotube formation. Invest Ophthalmol Vis Sci, 2000, 41(7): 1608-1616. | [9] | Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord, 2007, 17(5): 355-367. | [10] | Newell-Litwa KA, Horwitz R, Lamers ML. Non-muscle myosin II in disease: mechanisms and therapeutic opportunities. Dis Model Mech, 2015, 8(12): 1495-1515. | [11] | Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet, 2006, 38(5): 561-565. | [12] | 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. Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3. Am J Hum Genet, 2015, 96(5): 841-849. | [13] | Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, ?zcelik C. Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PLoS One, 2011, 6(12): e28872. | [14] |
[1] |
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[2] |
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[3] |
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[4] |
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[5] |
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