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Volumn 50, Issue 4, 1996, Pages 229-231

Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?

Author keywords

Emery Dreifuss muscular dystrophy; Emery Dreifuss syndrome; Hauptmann Thannhauser syndrome; Rigid spine syndrome; Rigid spine

Indexed keywords

ADULT; ANKLE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTRACTURE; ELBOW; EMERY DREIFUSS MUSCULAR DYSTROPHY; HUMAN; MALE; MUSCLE WEAKNESS; PRIORITY JOURNAL; SCHOOL CHILD; SPINE DISEASE;

EID: 0030443802     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02632.x     Document Type: Article
Times cited : (7)

References (13)
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  • 2
    • 0017259099 scopus 로고
    • Benign myopathy, with autosomal dominant inheritance - A report on three pedigrees
    • Bethlem J, van Wijngaarden GK. Benign myopathy, with autosomal dominant inheritance - a report on three pedigrees. Brain 1976: 99: 91-100.
    • (1976) Brain , vol.99 , pp. 91-100
    • Bethlem, J.1    Van Wijngaarden, G.K.2
  • 3
    • 0015597292 scopus 로고
    • Rigid spine syndrome: A muscle syndrome in search of a name
    • Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 1973: 66: 219-220.
    • (1973) Proc R Soc Med , vol.66 , pp. 219-220
    • Dubowitz, V.1
  • 4
    • 0024419522 scopus 로고
    • Emery-Dreifuss syndrome
    • Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989: 26: 637-641.
    • (1989) J Med Genet , vol.26 , pp. 637-641
    • Emery, A.E.H.1
  • 5
    • 0020398795 scopus 로고
    • An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy
    • Fenichel GM, Sul YC, Kilroy AW, Blouin R. An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. Neurology 1982: 32:1399-1401.
    • (1982) Neurology , vol.32 , pp. 1399-1401
    • Fenichel, G.M.1    Sul, Y.C.2    Kilroy, A.W.3    Blouin, R.4
  • 7
    • 0025886934 scopus 로고
    • Congenital myopathies
    • Goebel HH. Congenital myopathies. Acta Paediatr Jpn 1991: 33: 247-255.
    • (1991) Acta Paediatr Jpn , vol.33 , pp. 247-255
    • Goebel, H.H.1
  • 8
    • 0028018998 scopus 로고
    • Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures: description of two new families
    • Merlini L, Morandi L, Granata C, Balestrazzi A. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures: description of two new families. Neuromusc Disord 1994: 4: 503-511.
    • (1994) Neuromusc Disord , vol.4 , pp. 503-511
    • Merlini, L.1    Morandi, L.2    Granata, C.3    Balestrazzi, A.4
  • 11
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    • Rigid spine syndrome. A type I fibre myopathy
    • Seay AR, Ziter FA, Petajan JH. Rigid spine syndrome. A type I fibre myopathy. Arch Neurol 1977: 34: 119-122.
    • (1977) Arch Neurol , vol.34 , pp. 119-122
    • Seay, A.R.1    Ziter, F.A.2    Petajan, J.H.3
  • 13
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    • Is rigid-spine syndrome a distinct clinical entity?
    • Vita G, Girlanda P, Santoro M, Messina C. Is rigid-spine syndrome a distinct clinical entity? Muscle Nerve 1983: 6: 458-460.
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    • Vita, G.1    Girlanda, P.2    Santoro, M.3    Messina, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.