期刊
NEUROLOGY
卷 61, 期 3, 页码 384-386出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000061520.63546.8F
关键词
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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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