Inflammatory infiltrates and inclusions within muscle fibres...

Mutation of the muscle-specific intermediate filament desmin leads to the rare disease desmin-related myopathy. This disorder starts with weakness of the lower limbs when patients are in their 20s or 30s. As symptoms worsen, weakness in respiratory and cardiac muscles occurs, which can lead to serious problems including sudden cardiac arrest. Which of the following mutations would disrupt desmin intermediate filament structure or function and could explain the symptoms of desmin-related myopathy? Choose all of the possible mutations: Choose one or more: A. Mutation such that formation of dimers is blocked. B. Alteration in the twist or coiling of the dimers, blocking formation of staggered tetramers. C. Disruption of the polarity of the final desmin strands. D. Alteration in head groups so tetramers are unable to link end to end.

Md.Daniyal A.