| 1 | CMH10, MYL2
|
| Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.
|
| Greenberg MJ, Kazmierczak K, Szczesna-Cordary D, Moore JR.
|
| Proc Natl Acad Sci U S A 107(40):17403-8. Epub 2010 Sep 20.
2010
|
| 2 | CMH10, MYL2
|
| Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.
|
| Szczesna-Cordary D, Guzman G, Ng SS, Zhao J.
|
| J Biol Chem 279(5):3535-42. Epub 2003 Nov 1. 2004
|
| 3 | CMH8, CMH10, MYL2, MYL3
|
| Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
|
| Poetter K, et al.
|
| Nat Genet 13 : 63-68. 1996
|