Nemaline myopathy is a congenital neuromuscular disorder, which primarily affects the thin filaments. Clinically the most important feature is muscle weakness; however, this weakness is poorly understood. The present investigation aimed to determine the torque angle relationship of the knee extensor muscles during in vivo muscle contractions in a family with a novel phenotype of nemaline myopathy. The results of this study show that quadriceps weakness occurs predominantly at higher knee flexion angles, but relatively normal strength was found at angles closer to full knee extension. When the relative torque angle relationships were considered, torque loss at smaller than optimum knee flexion angle was greater in the patients compared with the controls. In addition, the optimum angle for maximal quadriceps torque production was shifted towards smaller knee flexion angles in the patients. This suggests that a weakness specifically at higher knee flexion angles probably occurs as a result of adaptations consequently to the disease. Furthermore, it is important to assess muscle function at different joint positions to allow adequate interpretation of muscle weakness.

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