X-linked Emery–Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization
Carmen Paradas MD
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain
Search for more papers by this authorCorresponding Author
Celedonio Márquez MD
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, SpainSearch for more papers by this authorEduard Gallardo PhD
Servei de Neurologia i Laboratori de Neurologia Experimental (Institut de Recerca), Hospital de la Sta Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain
Search for more papers by this authorNoemí de Luna BSc
Servei de Neurologia i Laboratori de Neurologia Experimental (Institut de Recerca), Hospital de la Sta Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain
Search for more papers by this authorIsidoro Chinchón MD
Servicio de Anatomía Patológica, Hospital Virgen del Rocío, Sevilla, Spain
Search for more papers by this authorDominique Recan MD
Laboratoire de Biochimie et Génétique Moleculaire & Banque de Cellules, Hôpital Cochin-Maternité, Paris, France
Search for more papers by this authorMaría Dolores Jiménez MD
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain
Search for more papers by this authorIsabel Illa MD
Servei de Neurologia i Laboratori de Neurologia Experimental (Institut de Recerca), Hospital de la Sta Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain
Search for more papers by this authorCarmen Paradas MD
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain
Search for more papers by this authorCorresponding Author
Celedonio Márquez MD
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, SpainSearch for more papers by this authorEduard Gallardo PhD
Servei de Neurologia i Laboratori de Neurologia Experimental (Institut de Recerca), Hospital de la Sta Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain
Search for more papers by this authorNoemí de Luna BSc
Servei de Neurologia i Laboratori de Neurologia Experimental (Institut de Recerca), Hospital de la Sta Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain
Search for more papers by this authorIsidoro Chinchón MD
Servicio de Anatomía Patológica, Hospital Virgen del Rocío, Sevilla, Spain
Search for more papers by this authorDominique Recan MD
Laboratoire de Biochimie et Génétique Moleculaire & Banque de Cellules, Hôpital Cochin-Maternité, Paris, France
Search for more papers by this authorMaría Dolores Jiménez MD
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain
Search for more papers by this authorIsabel Illa MD
Servei de Neurologia i Laboratori de Neurologia Experimental (Institut de Recerca), Hospital de la Sta Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain
Search for more papers by this authorAbstract
We report a striking abundance of rimmed vacuoles in two brothers with X-linked 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 in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding. Muscle Nerve, 2005
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