GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 12913203.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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 V572L and I472T.
Medical subject headings
- Carbohydrate Epimerases
- Multienzyme Complexes
- Muscular Dystrophies
- Phosphotransferases (Alcohol Group Acceptor)