Article
The two mutations of actin-myosin interface and their effect on the dynamics, structures, and functions of skeletal muscle actin.
Journal of biomolecular structure & dynamics - 1 Feb 2019
Sadat Mohajer Faeze, Parvizpour Sepideh, Razmara Jafar, Shahir Shamsir Mohd
Abstract excerpt
Congenital myopathy is a broad category of muscular diseases with symptoms appearing at the time of birth. One type of congenital myopathy is Congenital Fiber Type Disproportion (CFTD), a severely debilitating disease. The G48D and G48C mutations in the D-loop and the actin-myosin interface are the two causes of CFTD. These mutations have been shown to significantly affect the structure and function of muscle...
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