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X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. (Articolo in rivista)

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X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. (Articolo in rivista) (literal)

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Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. (1997)
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
in Annals of neurology; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
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Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. (literal)

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http://onlinelibrary.wiley.com/store/10.1002/ana.410420218/asset/410420218_ftp.pdf;jsessionid=57802609600E74EFD454D0CCB2F9DB48.d01t02?v=1&t=hj8lkooi&s=1a280cd24cd29116bf858b7e43c09d312f87f205 (literal)

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Department of Neuromuscular Diseases, Neurological National Institute \"C Besta,\" Milano; Institute of Genetics, Biochemistry and Evolution, CNR, Pavia; Muscle Clinic, Istituto Ortopedico Rizzoli, Bologna; Istituto di Patologia Generale e Oncologia and Dipartimento di Internistica Clinica e Sperimentale \"F Magrassi,\" Università degli Studi, Napoli; Department of Pediatrics, Università degli Studi di Firenze, Firenze, Italy. (literal)

Titolo

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. (literal)

Abstract

We have raised an anti-emerin polyclonal antibody against a fusion protein encompassing most of the hydrophilic portion of emerin. Using this antibody, we have analyzed emerin expression in Emery-Dreifuss muscular dystrophy (EDMD) patients and controls, by immunocytochemistry, in skeletal muscle and skin, and by immunoblot, in peripheral blood mononuclear cells and lymphoblasts. Emerin was localized on the surfaces of nuclei in control skeletal muscle and skin but was absent or reduced in patient skeletal muscle, was absent from the skin of patients, and was expressed only in a few nuclei in a patient's mother. Immunoblot of peripheral blood cells from EDMD patients showed absence of the emerin band, altered-size emerin, or a protein of normal molecular mass but slightly reduced quantity. The diagnosis of X-linked EDMD is normally confirmed by genetic analysis of the STA gene coding for emerin. We propose immunocytochemical evaluation of emerin expression in skin biopsies as a sensitive and more convenient tool for diagnosing X-linked EDMD and, in particular, for distinguishing it from the autosomal dominant form. This technique may be applied to suspected EDMD patients, especially sporadic cases or those with incomplete clinical phenotype, and also suspected carriers. Immunoblot of peripheral blood cells is also useful, but it may not unequivocally identify carriers and some patients. (literal)

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