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...
Main Authors: | Tajsharghi, H, Hilton-Jones, D, Raheem, O, Saukkonen, A, Oldfors, A, Udd, B |
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Formato: | Journal article |
Idioma: | English |
Publicado em: |
2010
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