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Article

<i>GNE</i> mutations causing distal myopathy with rimmed vacuoles with inflammation

12 Aug 2003

Abstract excerpt

The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by...

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PMID: 12913203
DOI: 10.1212/01.wnl.0000061520.63546.8f

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