Abstract
Distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (hIBM) is a moderately progressive autosomal recessive myopathy secondary to mutations in the GNE gene that encodes essential enzyme in sialic acid biosynthesis. It is characterized clinically by skeletal muscle atrophy and weakness initially affecting distal muscles. Muscle biopsy features include rimmed vacuoles, scattered angular fibers, and intracellular accumulation of amyloid and other proteins. To date, no therapy is available for this debilitating myopathy, mainly because precise understanding of the disease pathomechanism has been elusive.
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