메뉴 건너뛰기




Volumn 37, Issue 8, 2003, Pages 772-774

The laminopathy saga;La saga de las laminopatías

Author keywords

Contractures; Emery Dreifuss; Lamina A C; Laminopathies; Muscular dystrophy; Nuclear membrane

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; GENE; GENE MUTATION; GENETIC HETEROGENEITY; HEART DILATATION; HEART MUSCLE CONDUCTION DISTURBANCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LAMINA A C GENE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; LMNA GENE; PHENOTYPE; REVIEW; X CHROMOSOME LINKAGE;

EID: 0242298799     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3708.2003272     Document Type: Review
Times cited : (6)

References (22)
  • 1
    • 0034213873 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy - A 40 year retrospective
    • Emery AEH. Emery-Dreifuss muscular dystrophy-a 40 year retrospective. Neuromusc Disord 2000; 10: 228-32.
    • (2000) Neuromusc Disord , vol.10 , pp. 228-232
    • Emery, A.E.H.1
  • 2
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 1994; 8: 323-7.
    • (1994) Nature Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3    Mancini, M.4    Regis, S.5    Romeo, G.6
  • 3
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet 1996; 12: 254-9.
    • (1996) Nature Genet , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3    Kurano, Y.4    Kawada, J.5    Okada, R.6
  • 4
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet 1999; 21: 285-8.
    • (1999) Nature Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3    Becane, H.M.4    Hammouda, E.H.5    Merlini, L.6
  • 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, Urtizberea A, Becane HM, Recan D, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000; 48: 170-80.
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3    Urtizberea, A.4    Becane, H.M.5    Recan, D.6
  • 6
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Di Barletta M, Ricci, E, Galluzzi G, Tonali P, Mora M, Morandi L, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000; 66: 1407-12.
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Di Barletta, M.1    Ricci, E.2    Galluzzi, G.3    Tonali, P.4    Mora, M.5    Morandi, L.6
  • 7
    • 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 (LGMDIB)
    • Muchir A, Bonne G, Van der Kooi AJ, Van Meegen M, Baas F, Bolhuis PA, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB). Hum Mol Genet 2000; 9: 1453-9.
    • (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, F.5    Bolhuis, P.A.6
  • 8
    • 0033636387 scopus 로고    scopus 로고
    • High incidence of sudden death of conduction system and myocardial disease due to lamins A/C gene mutation
    • Becane HM, Bonne G, Vamous S, Muchir A, Ortega V, Hammouda EH, et al. High incidence of sudden death of conduction system and myocardial disease due to lamins A/C gene mutation. Pacing Clin Electrophysiol 2000; 23: 1661-6.
    • (2000) Pacing Clin Electrophysiol , vol.23 , pp. 1661-1666
    • Becane, H.M.1    Bonne, G.2    Vamous, S.3    Muchir, A.4    Ortega, V.5    Hammouda, E.H.6
  • 9
    • 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, Wolff MR, Porcu M, Frenneaux M, et al. 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 1999; 341: 1715-24.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3    Wolff, M.R.4    Porcu, M.5    Frenneaux, M.6
  • 11
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 2000; 9: 109-12.
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 12
    • 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, Vallat JM, Tazir M, Kassouri N, et al. 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 2002; 70: 726-36.
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3    Vallat, J.M.4    Tazir, M.5    Kassouri, N.6
  • 14
    • 0036238678 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy (XL-EDMD, MIM# 310300, STA gene coding for emerin) (AD-EDMD, MIN# 181350, LMNA gene coding for lamin A/C)
    • Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy (XL-EDMD, MIM# 310300, STA gene coding for emerin) (AD-EDMD, MIN# 181350, LMNA gene coding for lamin A/C). Europ J Hum Genet 2002; 10: 157-61.
    • (2002) Europ J Hum Genet , vol.10 , pp. 157-161
    • Helbling-Leclerc, A.1    Bonne, G.2    Schwartz, K.3
  • 16
    • 0034882439 scopus 로고    scopus 로고
    • A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
    • Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, et al. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromusc Disord 2001; 11: 542-6.
    • (2001) Neuromusc Disord , vol.11 , pp. 542-546
    • Kitaguchi, T.1    Matsubara, S.2    Sato, M.3    Miyamoto, K.4    Hirai, S.5    Schwartz, K.6
  • 17
    • 0034090893 scopus 로고    scopus 로고
    • Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)
    • Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, et al. Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). Neurology 2000; 54: 1704-5.
    • (2000) Neurology , vol.54 , pp. 1704-1705
    • Mercuri, E.1    Manzur, A.Y.2    Jungbluth, H.3    Bonne, G.4    Muchir, A.5    Sewry, C.6
  • 18
    • 0037183491 scopus 로고    scopus 로고
    • Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    • Van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002; 59: 620-3.
    • (2002) Neurology , vol.59 , pp. 620-623
    • Van der Kooi, A.J.1    Bonne, G.2    Eymard, B.3    Duboc, D.4    Talim, B.5    Van der Valk, M.6
  • 19
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: Their structure, assembly, and interactions
    • Stuurman N, Heins S, Aebi U. Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 1998; 122: 42-66.
    • (1998) J Struct Biol , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 20
    • 0034864629 scopus 로고    scopus 로고
    • Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    • Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, et al. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 2001; 27: 281-90.
    • (2001) Neuropathol Appl Neurobiol , vol.27 , pp. 281-290
    • Sewry, C.A.1    Brown, S.C.2    Mercuri, E.3    Bonne, G.4    Feng, L.5    Camici, G.6
  • 21
    • 0035697055 scopus 로고    scopus 로고
    • Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
    • Ostlund C, Bonne G, Schwartz K, Worman HJ. Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci 2001; 114: 4435-45.
    • (2001) J Cell Sci , vol.114 , pp. 4435-4445
    • Ostlund, C.1    Bonne, G.2    Schwartz, K.3    Worman, H.J.4
  • 22
    • 18444382032 scopus 로고    scopus 로고
    • The Ig-like structure of the C-terminal domain of lamin a/c, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
    • Krimm I, Ostlund C, Gilquin B, Couprie J, Hossenlopp P, Momon JP, et al. The Ig-like structure of the C-terminal domain of lamin a/c, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. Structure (Camb) 2002; 10: 811-23.
    • (2002) Structure (Camb) , vol.10 , pp. 811-823
    • Krimm, I.1    Ostlund, C.2    Gilquin, B.3    Couprie, J.4    Hossenlopp, P.5    Momon, J.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.