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Neurology
Volumn 52, Issue 1, 1999, Pages 174-176
Respiratory muscle involvement in Bethlem myopathy
Author keywords

[No Author keywords available]
Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BREATHING MUSCLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ELECTROPHYSIOLOGY; HUMAN; LUNG FUNCTION TEST; MALE; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE; THORAX RADIOGRAPHY;
EID: 0032934331     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.1.174     Document Type: Article
Times cited : (33)
References (9)
  • 1
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    • Bethlem, J.1    Van Winjngaarden, G.K.2
  • 2
    • 0017799279 scopus 로고
    • Further investigations on benign myopathy with autosomal dominant inheritance
    • Arts WF, Bethlem J, Volkers WS. Further investigations on benign myopathy with autosomal dominant inheritance. J Neurol 1978;217:201-206.
    • (1978) J Neurol , vol.217 , pp. 201-206
    • Arts, W.F.1    Bethlem, J.2    Volkers, W.S.3
  • 3
    • 0023908963 scopus 로고
    • Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)
    • Mohire MD, Tandan R, Fries T, Little BW, Pendlebury WW, Bradley WG. Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). Neurology 1988;38:573-580.
    • (1988) Neurology , vol.38 , pp. 573-580
    • Mohire, M.D.1    Tandan, R.2    Fries, T.3    Little, B.W.4    Pendlebury, W.W.5    Bradley, W.G.6
  • 4
    • 0028018998 scopus 로고
    • Bethlem myopathy: Early-onset benign autosomal dominant myopathy-with contractures. Description of two new families
    • Merlini L, Morandi L, Granata C, Ballestrazzi A. Bethlem myopathy: early-onset benign autosomal dominant myopathy-with contractures. Description of two new families. Neuromuscul Disord 1994;4:503-511.
    • (1994) Neuromuscul Disord , vol.4 , pp. 503-511
    • Merlini, L.1    Morandi, L.2    Granata, C.3    Ballestrazzi, A.4
  • 5
    • 0028269262 scopus 로고
    • A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance
    • Nielson JF, Jakobsen J. A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance. Neuromuscul Disord 1994;4:139-142.
    • (1994) Neuromuscul Disord , vol.4 , pp. 139-142
    • Nielson, J.F.1    Jakobsen, J.2
  • 6
    • 0029090566 scopus 로고
    • Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter
    • Malandrini A, Scarpini C, Fabrizi GM, Parotta E, Salvadori C, Guazzi GC. Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter. J Neurol Sci 1995;132:195-200.
    • (1995) J Neurol Sci , vol.132 , pp. 195-200
    • Malandrini, A.1    Scarpini, C.2    Fabrizi, G.M.3    Parotta, E.4    Salvadori, C.5    Guazzi, G.C.6
  • 7
    • 0029988596 scopus 로고    scopus 로고
    • Genetic localization of Bethlem myopathy
    • Jobsis GJ, Bolhuis PA, Boers JM, et al. Genetic localization of Bethlem myopathy. Neurology 1996;46:779-782.
    • (1996) Neurology , vol.46 , pp. 779-782
    • Jobsis, G.J.1    Bolhuis, P.A.2    Boers, J.M.3
  • 8
    • 8944254698 scopus 로고    scopus 로고
    • Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
    • Speer MC, Tandan R, Rao PN, et al. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet 1996;5:1043-1046.
    • (1996) Hum Mol Genet , vol.5 , pp. 1043-1046
    • Speer, M.C.1    Tandan, R.2    Rao, P.N.3
  • 9
    • 7144255542 scopus 로고    scopus 로고
    • Missense mutation in a Von Willebrand factor type a domain of the alpha 3 (VI) collagen gene leads to Bethlem myopathy
    • Pan TC, Zhang RZ, Pericak-Vance MA, et al. Missense mutation in a Von Willebrand factor type A domain of the alpha 3 (VI) collagen gene leads to Bethlem myopathy. Hum Mol Genet 1998;7:807-812.
    • (1998) Hum Mol Genet , vol.7 , pp. 807-812
    • Pan, T.C.1    Zhang, R.Z.2    Pericak-Vance, M.A.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.