HSPB8
01Interactions
02Clinical importance
Mutations in this gene have been associated with an autosomal dominant rimmed vacuolar myopathy The clinical features of this condition are distal and proximal myopathy. MRI show severe relatively symmetric multifocal fatty degenerative changes within the muscles. Muscle biopsy shows rimmed vacuoles, muscle fiber atrophy and endomysial fibrosis.
Sources and credits
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Images, from Wikimedia Commons:
- Ideogram human chromosome 12.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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