We report a striking abundance of rimmed vacuoles in two brothers with X- li nked Emery- Dreifuss muscular dystrophy (X- EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysi...We report a striking abundance of rimmed vacuoles in two brothers with X- li nked Emery- Dreifuss muscular dystrophy (X- EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2 - bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin i n the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack c omplex (MAC) deposition either in vacuoles or muscle fibers. The presence of rim med vacuoles can be a histopathological finding in X- EDMD, and the diagnosis s hould not be excluded in clinically well- defined EDMD patients because of this finding.展开更多
文摘We report a striking abundance of rimmed vacuoles in two brothers with X- li nked Emery- Dreifuss muscular dystrophy (X- EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2 - bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin i n the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack c omplex (MAC) deposition either in vacuoles or muscle fibers. The presence of rim med vacuoles can be a histopathological finding in X- EDMD, and the diagnosis s hould not be excluded in clinically well- defined EDMD patients because of this finding.
