International Journal of Molecular Sciences | |
Thick and Thin Filament Gene Mutations in Striated Muscle Diseases | |
关键词: sarcomere; myosin; myosin heavy chain; actin; myopathy; myosin myopathy; | |
DOI : 10.3390/ijms9071259 | |
来源: mdpi | |
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【 摘 要 】
The sarcomere is the fundamental unit of cardiac and skeletal muscle contraction. During the last ten years, there has been growing awareness of the etiology of skeletal and cardiac muscle diseases originating in the sarcomere, an important evolving field. Many sarcomeric diseases affect newborn children, i. e. are congenital myopathies. The discovery and characterization of several myopathies caused by mutations in myosin heavy chain genes, coding for the major component of skeletal muscle thick filaments, has led to the introduction of a new entity in the field of neuromuscular disorders:
【 授权许可】
CC BY
© 2008 by MDPI
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