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Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy
Author(s) -
Ognibene A.,
Sabatelli P.,
Petrini S.,
Squarzoni S.,
Riccio M.,
Santi S.,
Villanova M.,
Palmeri S.,
Merlini L.,
Maraldi N.M.
Publication year - 1999
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199907)22:7<864::aid-mus8>3.0.co;2-g
Subject(s) - emerin , muscular dystrophy , lamin , nuclear lamina , biology , skeletal muscle , pathology , lmna , anatomy , microbiology and biotechnology , nuclear protein , nucleus , genetics , medicine , gene , transcription factor
Ultrastructural alterations in the nuclear architecture were found in skeletal muscle and skin cultured cells from a patient affected by X‐linked Emery‐Dreifuss muscular dystrophy (EMD) carrying a null mutation. The molecular defect of X‐linked EMD is the absence of emerin, a nuclear envelope‐associated protein which is considered a component of the nuclear lamina. The nuclear changes were present in skeletal muscle and skin cultured cells with a frequency of about 10% and 18%, respectively. The main structures of the nuclear periphery were involved: lamina and nuclear envelope‐associated heterochromatin were affected, whereas the cisterna and the pore complexes appeared preserved, and the cytoplasm of the same cells appeared normal. Analogous localized defects were detectable by immunolabeling with antilamin A/C and B2 antibodies, as well as by selective propidium iodide chromatin staining. The lesions we describe could be the result of anomalous nuclear lamina organization in the absence of emerin. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 864–869, 1999