Population
Patients with hereditary inclusion-body myopathy (h-IBM) or distal myopathy with rimmed vacuoles (DMRV)
Design
Review
Authors
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May guide recognition of GNE-related myopathy; leaves open validation of sialic acid pathway therapies in trials.
This review summarizes the clinical features, pathogenic mechanisms involving GNE gene mutations, and therapeutic perspectives for hereditary inclusion-body myopathy.
Broccolini et al. (2009) studied this question.
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