alpha-B crystallinopathy

Related Overviews


'alpha-B crystallinopathy' can also refer to...


More Like This

Show all results sharing this subject:

  • Medicine and Health


Show Summary Details

Quick Reference

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.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.