Article

A novel c.515delC <i>HSPB8</i> -multisystem proteinopathy associated with inclusion body myopathy with cardiomyopathy

2024-07-18

Abstract excerpt

Mutations in the HSPB8 , or heat shock protein family B (small) member 8, is a member of the chaperone-assisted selective autophagy complex and has recently been associated with rimmed vacuolar myopathy. We report a family with a HSPB8 rimmed vacuolar myopathy caused by a novel c.515delC variant with progressive muscle weakness, pathological findings of rimmed vacuoles of muscle biopsy, and one individual who di...

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Identifiers and source

Literature Corpus work: 10534a5b-972a-5c30-807b-6c4ecd54dc2b
DOI: 10.1101/2024.07.17.24305631

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