메뉴 건너뛰기




Volumn 49, Issue 10, 1999, Pages 898-902

A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells

Author keywords

Familial amyloid polyneuropathy; Heart failure; Prealbumin

Indexed keywords

PREALBUMIN;

EID: 0032703097     PISSN: 13205463     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1827.1999.00962.x     Document Type: Article
Times cited : (19)

References (16)
  • 1
    • 0024589746 scopus 로고
    • Genetic and clinical studies of Japanese patients with familial amyloid polyneuropathy
    • Harada T, Kito S, Shimoyama M et al. Genetic and clinical studies of Japanese patients with familial amyloid polyneuropathy. Eur Neurol. 1989; 29: 48-52.
    • (1989) Eur. Neurol. , vol.29 , pp. 48-52
    • Harada, T.1    Kito, S.2    Shimoyama, M.3
  • 3
    • 44949277138 scopus 로고
    • Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122)
    • Nichols WC, Liepnieks JJ, Snyder EL, Benson MD. Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). J. Lab. Clin. Med. 1991; 117: 175-180.
    • (1991) J. Lab. Clin. Med. , vol.117 , pp. 175-180
    • Nichols, W.C.1    Liepnieks, J.J.2    Snyder, E.L.3    Benson, M.D.4
  • 4
    • 0026724677 scopus 로고
    • A new transthyretin mutation associated with amyloid cardiomyopathy
    • Saraiva MJM, Almeida MR, Sherman W et al. A new transthyretin mutation associated with amyloid cardiomyopathy. Am. J. Hum. Genet. 1992; 50: 1027-1030.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 1027-1030
    • Saraiva, M.J.M.1    Almeida, M.R.2    Sherman, W.3
  • 5
    • 0023740625 scopus 로고
    • A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin
    • Nordlie M, Sletten K, Husby G, Ranløv PJ. A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. Scand. J. Immunol. 1988; 27: 119-122.
    • (1988) Scand. J. Immunol. , vol.27 , pp. 119-122
    • Nordlie, M.1    Sletten, K.2    Husby, G.3    Ranløv, P.J.4
  • 6
    • 0026331577 scopus 로고
    • Transthyretin Leu 68 in a form of cardiac amyloidosis
    • Almeida MR, Hesse A, Steinmetz A et al. Transthyretin Leu 68 in a form of cardiac amyloidosis. Basic Res. Cardiol. 1991; 86: 567-571.
    • (1991) Basic Res. Cardiol. , vol.86 , pp. 567-571
    • Almeida, M.R.1    Hesse, A.2    Steinmetz, A.3
  • 7
    • 0031012126 scopus 로고    scopus 로고
    • Transthyretin ILE 20, a new variant associated with late-onset cardiac amyloidosis
    • Jacobson DR, Pan T, Kyle RA, Buxbaum JN. Transthyretin ILE 20, a new variant associated with late-onset cardiac amyloidosis. Hum. Mutat. 1997; 9: 83-85.
    • (1997) Hum. Mutat. , vol.9 , pp. 83-85
    • Jacobson, D.R.1    Pan, T.2    Kyle, R.A.3    Buxbaum, J.N.4
  • 8
    • 0021223485 scopus 로고
    • Clinical significance of histopathologic patterns of cardiac amyloidosis
    • Smith TJ, Kyle RA, Lie JT. Clinical significance of histopathologic patterns of cardiac amyloidosis. Mayo Clin. Proc. 1984; 59: 547-555.
    • (1984) Mayo Clin. Proc. , vol.59 , pp. 547-555
    • Smith, T.J.1    Kyle, R.A.2    Lie, J.T.3
  • 9
    • 0030788113 scopus 로고    scopus 로고
    • Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues
    • Date Y, Nakazato M, Kangawa K, Shirieda K, Fujimoto T, Matsukura S. Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues. J. Neurol. Sci. 1997; 150: 143-148.
    • (1997) J. Neurol. Sci. , vol.150 , pp. 143-148
    • Date, Y.1    Nakazato, M.2    Kangawa, K.3    Shirieda, K.4    Fujimoto, T.5    Matsukura, S.6
  • 10
    • 0027476367 scopus 로고
    • The X-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30→Met variant to 1.7-Ä resolution
    • Hamilton JA, Steinrauf LK, Braden BC et al. The X-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30→Met variant to 1.7-Ä resolution. J. Biol. Chem. 1993; 268: 2416-2424.
    • (1993) J. Biol. Chem. , vol.268 , pp. 2416-2424
    • Hamilton, J.A.1    Steinrauf, L.K.2    Braden, B.C.3
  • 11
    • 0028939051 scopus 로고
    • Amyloid and the cardiovascular system: A review of pathogenesis and pathology with clinical correlations
    • Walley VM, Kisilevsky R, Young D. Amyloid and the cardiovascular system: A review of pathogenesis and pathology with clinical correlations. Cardiovasc. Pathol. 1995; 4: 79-102.
    • (1995) Cardiovasc. Pathol. , vol.4 , pp. 79-102
    • Walley, V.M.1    Kisilevsky, R.2    Young, D.3
  • 12
    • 0028233508 scopus 로고
    • Systemic distribution of β2-microglobulin-derived amyloidosis in patients who undergo long-term hemodialysis: Report of seven cases and review of the literature
    • Gal R, Korzets A, Schwartz A, Rath-Wolfson L, Gafter U. Systemic distribution of β2-microglobulin-derived amyloidosis in patients who undergo long-term hemodialysis: Report of seven cases and review of the literature. Arch. Pathol. Lab. Med. 1994; 118: 718-721.
    • (1994) Arch. Pathol. Lab. Med. , vol.118 , pp. 718-721
    • Gal, R.1    Korzets, A.2    Schwartz, A.3    Rath-Wolfson, L.4    Gafter, U.5
  • 13
    • 0028314398 scopus 로고
    • A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy
    • Jacobson DR, Buxbaum JN. A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy. Hum. Mutat. 1994; 3: 254-260.
    • (1994) Hum. Mutat. , vol.3 , pp. 254-260
    • Jacobson, D.R.1    Buxbaum, J.N.2
  • 14
    • 0028839438 scopus 로고
    • Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease
    • McCutchen SL, Lai Z, Miroy GJ, Kelly JW, Colón W. Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease. Biochemistry 1995; 34: 13527-13536.
    • (1995) Biochemistry , vol.34 , pp. 13527-13536
    • McCutchen, S.L.1    Lai, Z.2    Miroy, G.J.3    Kelly, J.W.4    Colón, W.5
  • 15
    • 0027029195 scopus 로고
    • Type I familial amyloidotic polyneuropathy in Japan
    • Nakazato M, Shomi K, Miyazato M, Matsukura S. Type I familial amyloidotic polyneuropathy in Japan. Int. Med. 1992; 31: 1335-1338.
    • (1992) Int. Med. , vol.31 , pp. 1335-1338
    • Nakazato, M.1    Shomi, K.2    Miyazato, M.3    Matsukura, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.