Myofibrillar myopathies exhibit progressive muscle weakness and are characterized by structural failure of the muscle at the Z-disk and the formation of cytoplasmic protein aggregates. Mutations in the co-chaperone, and autophagy regulator, BAG3 are known to cause myofibrillar myopathy, with the first identified and most frequent mutation being BAG3P209L. We have previously demonstrated that expression of BAG3P209L is sufficient to cause formation of the characteristic protein aggregates but it is the loss of BAG3 that results in fibre disintegration.

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