New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
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DOI: 10.1212/nxg.0000000000000349
Abstract: Objective We clinically and molecularly characterize a new family with autosomal dominant rimmed vacuolar myopathy (RVM) caused by mutations in the HSPB8 gene. Methods We performed whole-exome and whole-genome sequencing in the family. Western blot… read more here.
Keywords: hspb8; pathology; dominant rimmed; autosomal dominant ... See more keywords