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Volumn 20, Issue 9, 1997, Pages 1194-1196

Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome

Author keywords

Centronuclear myopathy; Congenital myopathy; Myopathy; Myotubular myopathy

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FAMILY STUDY; FEMALE; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030811095     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199709)20:9<1194::AID-MUS19>3.0.CO;2-T     Document Type: Article
Times cited : (11)

References (18)
  • 3
    • 0001030415 scopus 로고
    • Congenital myopathies
    • Engel AG, Franzini-Armstrong C (eds): New York, McGraw-Hill
    • Fardeau M, Tomé FMS: Congenital myopathies, in Engel AG, Franzini-Armstrong C (eds): Myology, 2nd ed. New York, McGraw-Hill, 1994, pp 1500-1505.
    • (1994) Myology, 2nd Ed. , pp. 1500-1505
    • Fardeau, M.1    Tomé, F.M.S.2
  • 5
    • 0026077814 scopus 로고
    • Centronuclear myopathy - an inherited neuromuscular disorder: A report of 3 cases
    • Isaacs H, Badenhorst ME: Centronuclear myopathy - an inherited neuromuscular disorder: a report of 3 cases. S Afr Med J 1991;80:247-250.
    • (1991) S Afr Med J , vol.80 , pp. 247-250
    • Isaacs, H.1    Badenhorst, M.E.2
  • 6
    • 0014785852 scopus 로고
    • Type I muscle fibre atrophy and central nuclei: A rare familial neuromuscular disease
    • Karpati G, Carpenter S, Nelson RF: Type I muscle fibre atrophy and central nuclei: a rare familial neuromuscular disease. J Neurol Sci 1970;10:489-500.
    • (1970) J Neurol Sci , vol.10 , pp. 489-500
    • Karpati, G.1    Carpenter, S.2    Nelson, R.F.3
  • 7
    • 0016784726 scopus 로고
    • "Myotubular myopathy" and "type I fiber atrophy" in a family
    • Kinoshita M, Satoyoshi E, Matsuo N: "Myotubular myopathy" and "type I fiber atrophy" in a family. J Neurol Sci 1975;26:575-582.
    • (1975) J Neurol Sci , vol.26 , pp. 575-582
    • Kinoshita, M.1    Satoyoshi, E.2    Matsuo, N.3
  • 8
    • 0023149171 scopus 로고
    • Centronuclear myopathy with unusual clinical picture
    • Lovaste MG, Aldovini D, Ferrari G: Centronuclear myopathy with unusual clinical picture. Eur Neurol 1987;26:153-160.
    • (1987) Eur Neurol , vol.26 , pp. 153-160
    • Lovaste, M.G.1    Aldovini, D.2    Ferrari, G.3
  • 10
    • 0016808171 scopus 로고
    • Centronucleäre myopathie mit autosomal dominantem erbgang
    • Mortier W, Michaelis E, Becker J, Gerhard L: Centronucleäre myopathie mit autosomal dominantem erbgang. Humangenetik 1975;27:199-215.
    • (1975) Humangenetik , vol.27 , pp. 199-215
    • Mortier, W.1    Michaelis, E.2    Becker, J.3    Gerhard, L.4
  • 12
    • 0023188671 scopus 로고
    • Familial centronuclear myopathy: A clinical and pathological study
    • Reske-Nielsen E, Hein-Sorensen O, Vorre P: Familial centronuclear myopathy: a clinical and pathological study. Acta Neurol Scand 1987;76:115-122.
    • (1987) Acta Neurol Scand , vol.76 , pp. 115-122
    • Reske-Nielsen, E.1    Hein-Sorensen, O.2    Vorre, P.3
  • 13
    • 0015352885 scopus 로고
    • Centronuclear myopathy: Disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature
    • Schochet SS, Zellweger H, Ionasescu V, McCormick WF: Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature. J Neurol Sci 1972;16:215-228.
    • (1972) J Neurol Sci , vol.16 , pp. 215-228
    • Schochet, S.S.1    Zellweger, H.2    Ionasescu, V.3    McCormick, W.F.4
  • 14
    • 0013865106 scopus 로고
    • Myotubular myopathy: Persistence of fetal muscle in an adolescent boy
    • Spiro AJ, Shy GM, Gonatas NK: Myotubular myopathy: persistence of fetal muscle in an adolescent boy. Arch Neurol 1966;14:1-14.
    • (1966) Arch Neurol , vol.14 , pp. 1-14
    • Spiro, A.J.1    Shy, G.M.2    Gonatas, N.K.3
  • 16
    • 0029913828 scopus 로고    scopus 로고
    • Report on the 33rd ENMC International Workshop: X-linked myotubular myopathy
    • Thomas N, Wallgren-Pettersson C: Report on the 33rd ENMC International Workshop: X-linked myotubular myopathy. Neuromusc Disord 1996;6:129-132.
    • (1996) Neuromusc Disord , vol.6 , pp. 129-132
    • Thomas, N.1    Wallgren-Pettersson, C.2
  • 17
    • 0022413014 scopus 로고
    • Severe neonatal centronuclear myopathy with autosomal dominant inheritance
    • Torres CF, Griggs RC, Goetz JP: Severe neonatal centronuclear myopathy with autosomal dominant inheritance. Arch Neurol 1985;42:1011-1014.
    • (1985) Arch Neurol , vol.42 , pp. 1011-1014
    • Torres, C.F.1    Griggs, R.C.2    Goetz, J.P.3
  • 18
    • 0029023971 scopus 로고
    • The myotubular myopathies: Differential diagnosis of the X-linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
    • Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Earth PG: The myotubular myopathies: differential diagnosis of the X-linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 1995;32:673-679.
    • (1995) J Med Genet , vol.32 , pp. 673-679
    • Wallgren-Pettersson, C.1    Clarke, A.2    Samson, F.3    Fardeau, M.4    Dubowitz, V.5    Moser, H.6    Grimm, T.7    Barohn, R.J.8    Earth, P.G.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.