alpha-B crystallinopathy

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An autosomal dominant form of desmin-related myopathy (DRM), that results in weakness of the proximal and distal limb muscles, cardiomyopathy, and cataract. Patients with progressive myopathy characterized by myofibrillar degeneration that commences at the Z disc have been described. Mutations in α-*crystallin B truncate the C-terminal domain of the protein that is required for the chaperone function.

Subjects: Medicine and Health.

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