메뉴 건너뛰기




Volumn 73, Issue 10, 2002, Pages 1004-1011

Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures;Die Hauptmann-Thannhauser-muskeldystrophie und differenzialdiagnosen von myopathien mit kontrakturen

Author keywords

Cardiomyopathy; Contracture; Emery Dreifuss muscular dystrophy; Hauptmann Thannhauser muscular dystrophy; Lamin A C

Indexed keywords

LAMIN A; LAMIN C;

EID: 0036937607     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00115-002-1388-y     Document Type: Article
Times cited : (8)

References (35)
  • 1
    • 0022868315 scopus 로고
    • Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser)
    • Becker P (1986) Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser). Hum Genet 76: 184
    • (1986) Hum Genet , vol.76 , pp. 184
    • Becker, P.1
  • 2
    • 0025806195 scopus 로고
    • Progression of cardiac disease in Emery-Dreifuss muscular dystrophy
    • Bialer MG, McDaniel NL, Kelly TE (1991) Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol 14: 411-6
    • (1991) Clin Cardiol , vol.14 , pp. 411-416
    • Bialer, M.G.1    McDaniel, N.L.2    Kelly, T.E.3
  • 3
  • 4
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreyfuss muscular dystrophy
    • Bonne G, DiBarletta MR, Varnous S et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreyfuss muscular dystrophy. Nat Genet 21: 285-8
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    DiBarletta, M.R.2    Varnous, S.3
  • 5
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne G, Mercuri E, Muchir A et al. (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48: 170-180
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 6
    • 0035451481 scopus 로고    scopus 로고
    • Novel and recurrent mutations in lamin A/C in patients with emery-dreifuss muscular dystrophy
    • Brown CA, Lanning RW, McKinney KQ et al. (2001) Novel and recurrent mutations in lamin A/C in patients with emery-dreifuss muscular dystrophy. Am J Med Genet 102: 359-67
    • (2001) Am J Med Genet , vol.102 , pp. 359-367
    • Brown, C.A.1    Lanning, R.W.2    McKinney, K.Q.3
  • 7
    • 0014411288 scopus 로고
    • Silent limb contracture as a diagnostic indicator of tertiary syphilis
    • Dawson-Butterworth K (1968) Silent limb contracture as a diagnostic indicator of tertiary syphilis. Br J Clin Pract 22: 471-3
    • (1968) Br J Clin Pract , vol.22 , pp. 471-473
    • Dawson-Butterworth, K.1
  • 8
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth Disorder Type 2) and mouse
    • De Sandre-Giovannoli A, Chaouch M, Kozlov S et al. (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth Disorder Type 2) and mouse. Am J Hum Genet 70: 726-36
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3
  • 10
    • 0035260443 scopus 로고    scopus 로고
    • Alfred Hauptmann (1881-1948)
    • Ehrt U, Krasnianski M (2001) Alfred Hauptmann (1881-1948). Nervenarzt 72: 162-3
    • (2001) Nervenarzt , vol.72 , pp. 162-163
    • Ehrt, U.1    Krasnianski, M.2
  • 11
  • 12
  • 13
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease
    • Fatkin D, MacRae C, Sasaki T et al. (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease. N Engl J Med 341: 1715-24
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 14
    • 0033757859 scopus 로고    scopus 로고
    • Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases
    • Ferreiro A, Estournet B, Chateau D et al. (2000) Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases. Ann Neurol 48: 745-757
    • (2000) Ann Neurol , vol.48 , pp. 745-757
    • Ferreiro, A.1    Estournet, B.2    Chateau, D.3
  • 15
    • 0032928462 scopus 로고    scopus 로고
    • Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
    • Funokoshi M, Tsuchiya Y und K Arahata (1999) Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 9: 108-114
    • (1999) Neuromuscul Disord , vol.9 , pp. 108-114
    • Funokoshi, M.1    Tsuchiya, Y.2    Arahata, K.3
  • 16
    • 0001968110 scopus 로고
    • The muscular dystrophies
    • Walton J, Karpati G, Hilton-Jones D (eds). Churchill Livingstone, Edinburgh
    • Gardner-Medwein D, Walton J (1994) The muscular dystrophies. In: Walton J, Karpati G, Hilton-Jones D (eds) Disorders of voluntary muscle. Churchill Livingstone, Edinburgh, p 579
    • (1994) Disorders of Voluntary Muscle , pp. 579
    • Gardner-Medwein, D.1    Walton, J.2
  • 17
    • 0035145898 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan type) related to the site of missense mutations in lamin A/C gene
    • Gary A, Vinaitheerthan M, Weathwall PT, Bowcock AM (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan type) related to the site of missense mutations in lamin A/C gene. J Clin Endocrinol Metab 86: 59-65
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 59-65
    • Gary, A.1    Vinaitheerthan, M.2    Weathwall, P.T.3    Bowcock, A.M.4
  • 18
    • 0034536268 scopus 로고    scopus 로고
    • Mutations in the LMNA gene encoding Lamin A/C
    • Genschel J, Schmidt H (2000) Mutations in the LMNA gene encoding Lamin A/C. Human Mutat 16:451-459
    • (2000) Human Mutat , vol.16 , pp. 451-459
    • Genschel, J.1    Schmidt, H.2
  • 19
    • 0000990095 scopus 로고
    • Muscular shortening and dystrophy. A heredofamilial disease
    • Hauptmann A, Thannhauser SJ (1941) Muscular shortening and dystrophy. A heredofamilial disease. Arch Neurol Psychiatr 46: 654-664
    • (1941) Arch Neurol Psychiatr , vol.46 , pp. 654-664
    • Hauptmann, A.1    Thannhauser, S.J.2
  • 20
    • 0029771617 scopus 로고    scopus 로고
    • Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
    • Jöbsis GJ, Keizers H, Vreijling JP et al. (1996) Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 14: 113-5
    • (1996) Nat Genet , vol.14 , pp. 113-115
    • Jöbsis, G.J.1    Keizers, H.2    Vreijling, J.P.3
  • 21
    • 17144463714 scopus 로고    scopus 로고
    • Minicore myopathy in children: A clinical and histopathological study of 19 cases
    • Jungbluth H, Sewry C, Brown Sc et al. (2000) Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromusc Disord 10: 264-73
    • (2000) Neuromusc Disord , vol.10 , pp. 264-273
    • Jungbluth, H.1    Sewry, C.2    Brown, Sc.3
  • 22
    • 0021752806 scopus 로고
    • 2 Autopsy cases of congenital muscular dystrophy of Fukuyama type. A typical and an atypical case
    • Koga M, Abe M, Tateishi J, Antoku Y, Iwashita H, Miyoshino S (1984) 2 autopsy cases of congenital muscular dystrophy of Fukuyama type. a typical and an atypical case. No To Shinkei 36: 1103-8
    • (1984) No To Shinkei , vol.36 , pp. 1103-1108
    • Koga, M.1    Abe, M.2    Tateishi, J.3    Antoku, Y.4    Iwashita, H.5    Miyoshino, S.6
  • 23
    • 0022531566 scopus 로고
    • Emery-Dreifuss muscular dystrophy: Report of five cases in a family and a review of the literature
    • Merlini L, Granata C, Dominici P, Bonfiglioli S (1986) Emery-Dreifuss muscular dystrophy: report of five cases in a family and a review of the literature. Muscle Nerve 9: 481-5
    • (1986) Muscle Nerve , vol.9 , pp. 481-485
    • Merlini, L.1    Granata, C.2    Dominici, P.3    Bonfiglioli, S.4
  • 24
    • 17344366176 scopus 로고    scopus 로고
    • Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36
    • Moghadaszadeh B, Desguerre I, Topaloglu H et al. (1998) Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet 62: 1439-45
    • (1998) Am J Hum Genet , vol.62 , pp. 1439-1445
    • Moghadaszadeh, B.1    Desguerre, I.2    Topaloglu, H.3
  • 25
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A, Bonne G,van der Kooi AJ, van Meegen M, Baas PA, de Visser M, Schwartz K (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9: 1453-59
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van der Kooi, A.J.3    Van Meegen, M.4    Baas, P.A.5    De Visser, M.6    Schwartz, K.7
  • 27
    • 0033786789 scopus 로고    scopus 로고
    • Nuclear envelope proteins and associated diseases
    • Nagano A, Arahata K (2000) Nuclear envelope proteins and associated diseases. Curr Opin Neurol 13: 533-39
    • (2000) Curr Opin Neurol , vol.13 , pp. 533-539
    • Nagano, A.1    Arahata, K.2
  • 28
    • 0020565761 scopus 로고
    • Lipid storage myopathy associated with scoliosis and multiple joint contractures
    • Nogami H, Ogasawara N, Kasai T, Oki T, Murachi S (1983) Lipid storage myopathy associated with scoliosis and multiple joint contractures. Acta Neuropathol (Berlin) 61: 305-310
    • (1983) Acta Neuropathol (Berlin) , vol.61 , pp. 305-310
    • Nogami, H.1    Ogasawara, N.2    Kasai, T.3    Oki, T.4    Murachi, S.5
  • 29
    • 0019467836 scopus 로고
    • A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)
    • Nonaka I, Une Y, Ishihara T, Miyoshino, Nakashima T, Sugita H (1981) A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropaediatrics 12: 197-208
    • (1981) Neuropaediatrics , vol.12 , pp. 197-208
    • Nonaka, I.1    Une, Y.2    Ishihara, T.3    Miyoshino4    Nakashima, T.5    Sugita, H.6
  • 30
    • 0031594947 scopus 로고    scopus 로고
    • Laminin a2 muscular dystrophy. Genotyp/phenotyp studies of 22 patients
    • Pegoraro E, Marks H,Garcia CA et al. (1998) Laminin a2 muscular dystrophy. Genotyp/ phenotyp studies of 22 patients. Neurology 51: 101-110
    • (1998) Neurology , vol.51 , pp. 101-110
    • Pegoraro, E.1    Marks, H.2    Garcia, C.A.3
  • 31
  • 32
    • 0031667161 scopus 로고    scopus 로고
    • Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emrin expression
    • Taylor J, Sewry CA, Dubowitz V, Muntoni F (1998) Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emrin expression. Neurology 51: 1116-20
    • (1998) Neurology , vol.51 , pp. 1116-1120
    • Taylor, J.1    Sewry, C.A.2    Dubowitz, V.3    Muntoni, F.4
  • 33
    • 0033555567 scopus 로고    scopus 로고
    • Short-chain acyl-CoA dehydrogenase deficiency: A cause of ophthalmoplegia and multicore myopathy
    • Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J (1999) Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology 52: 366-72
    • (1999) Neurology , vol.52 , pp. 366-372
    • Tein, I.1    Haslam, R.H.2    Rhead, W.J.3    Bennett, M.J.4    Becker, L.E.5    Vockley, J.6
  • 35
    • 0032907629 scopus 로고    scopus 로고
    • 60th ENMC international workshop: Non X-linked Emery-Dreifuss muscular dystrophy
    • Wehnert M, Muntoni F (1999) 60th ENMC international workshop: non X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 9:115-20
    • (1999) Neuromuscul Disord , vol.9 , pp. 115-120
    • Wehnert, M.1    Muntoni, F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.