Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
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DOI: 10.1097/cnd.0000000000000231
Abstract: GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis. This myopathy is prevalent in the Iranian Jewish (IJ) descendants because of… read more here.
Keywords: iranian jewish; non gne; quadriceps sparing; gne ... See more keywords