Thick Filament Diseases
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-0-387-84847-1_7.pdf
Reference50 articles.
1. Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord 2007; 17:355–367.
2. Kjellgren D, Thornell LE, Andersen J et al. Myosin heavy chain isoforms in human extraocular muscles. Invest Ophthalmol Vis Sci 2003; 44:1419–25.
3. Ching YH, Ghosh TK, Cross SJ et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005; 37:423–8.
4. Zhu L, Vranckx R, Khau Van Kien P et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006; 38:343–9.
5. Poetter K, Jiang H, Hassanzadeh S et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996; 13:63–69.
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