Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into mechanical force. It is a major determinant of the physiological properties of each of the three muscle fibre types that make up the skeletal muscles. Heterozygous dominant missense mutations in myosin...

全面介绍

书目详细资料
Main Authors: Tajsharghi, H, Hilton-Jones, D, Raheem, O, Saukkonen, A, Oldfors, A, Udd, B
格式: Journal article
语言:English
出版: 2010