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...

תיאור מלא

מידע ביבליוגרפי
Main Authors: Tajsharghi, H, Hilton-Jones, D, Raheem, O, Saukkonen, A, Oldfors, A, Udd, B
פורמט: Journal article
שפה:English
יצא לאור: 2010