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.
| Predicate | Object |
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| rdf:type | |
| rdfs:comment |
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.
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| skos:exactMatch | |
| uniprot:name |
Neurology
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| uniprot:author |
Fukazawa T.,
Higashi T.,
Kikuchi S.,
Sasaki H.,
Tashiro K.,
Yabe I.,
Yoshida K.
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| uniprot:date |
2003
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| uniprot:pages |
384-386
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| uniprot:title |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
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| uniprot:volume |
61
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