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Volumn 30, Issue 3, 1999, Pages 161-163

Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion

Author keywords

Emerin; Emery Dreifuss muscular dystrophy; Molecular genetic diagnosis; Muscle contracture

Indexed keywords

EMERIN; MEMBRANE PROTEIN;

EID: 0032783007     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973484     Document Type: Article
Times cited : (6)

References (11)
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    • Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet. 8, 323-327 (1994).
    • (1994) Nature Genet. , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3    Mancini, M.4    Regis, S.5    Romeo, G.6
  • 2
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    • Emery-Dreifuss syndrome and other related disorders
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    • Emery, A.E.H.1
  • 3
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    • Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies
    • Manilal, S., Sewry, C. A., Nguyen, T. M., Muntoni, F., Morris, G. E. Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies. Neuromusc. Disord. 7, 63-66 (1997).
    • (1997) Neuromusc. Disord. , vol.7 , pp. 63-66
    • Manilal, S.1    Sewry, C.A.2    Nguyen, T.M.3    Muntoni, F.4    Morris, G.E.5
  • 4
    • 0022531566 scopus 로고
    • Emery-Dreifuss muscular dytrophy: Report of five cases in a family and review of the literature
    • Merlini, L., Granata, C., Dominici, P., Bonfiglioli, S., Emery-Dreifuss muscular dytrophy: report of five cases in a family and review of the literature. Muscle Nerve 9, 481-485 (1986).
    • (1986) Muscle Nerve , vol.9 , pp. 481-485
    • Merlini, L.1    Granata, C.2    Dominici, P.3    Bonfiglioli, S.4
  • 5
    • 15144346675 scopus 로고    scopus 로고
    • X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample
    • Mora, M., Cartegni, L., Di Blasi, C., Barresi, R., Bione, S., di Barletta, R., et al. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann. Neurol. 42, 249-253 (1997).
    • (1997) Ann. Neurol. , vol.42 , pp. 249-253
    • Mora, M.1    Cartegni, L.2    Di Blasi, C.3    Barresi, R.4    Bione, S.5    Di Barletta, R.6
  • 6
    • 0032055274 scopus 로고    scopus 로고
    • Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy
    • Muntoni, F., Lichtarowicz-Krynska, D. J., Sewry, C. A., Manilal, S., Recan, D., Llense, S., et al. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromusc. Disord. 8, 72-76 (1998).
    • (1998) Neuromusc. Disord. , vol.8 , pp. 72-76
    • Muntoni, F.1    Lichtarowicz-Krynska, D.J.2    Sewry, C.A.3    Manilal, S.4    Recan, D.5    Llense, S.6
  • 7
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano, A., Koga, R., Ogawa, M., Kurano, Y., Kawada, J., Okada, R., et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet. 12, 254-259 (1996).
    • (1996) Nature Genet. , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3    Kurano, Y.4    Kawada, J.5    Okada, R.6
  • 8
    • 0031964345 scopus 로고    scopus 로고
    • Emerin deletions occurring on both Xq28 inversion backgrounds
    • Small, K., Warren, S. T. Emerin deletions occurring on both Xq28 inversion backgrounds. Hum. Mol. Genet. 7, 135-139 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 135-139
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  • 9
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    • European workshop on Emery-Dreifuss muscular dystrophy 1991
    • Yates, J. R. W. European Workshop on Emery-Dreifuss Muscular Dystrophy 1991. Neuromusc. Disord. 1, 393-396 (1991).
    • (1991) Neuromusc. Disord. , vol.1 , pp. 393-396
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  • 10
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    • 43rd ENMC international workshop on Emery-Dreifuss muscular dystrophy
    • 22 June 1996, Naarden, The Netherlands
    • Yates, J. R. W. 43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands. Neuromusc. Disord. 7, 67-69 (1997).
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  • 11
    • 0031215452 scopus 로고    scopus 로고
    • Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is located at the inner nuclear membrane
    • Yorifuji, H., Tadano, Y., Tsuchiya, Y, Ogawa, M., Goto, K., Umetani, A., et al. Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is located at the inner nuclear membrane. Neurogenetics 1, 135-140 (1997).
    • (1997) Neurogenetics , vol.1 , pp. 135-140
    • Yorifuji, H.1    Tadano, Y.2    Tsuchiya, Y.3    Ogawa, M.4    Goto, K.5    Umetani, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.