메뉴 건너뛰기




Volumn 123, Issue 6, 2000, Pages 1229-1237

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features

Author keywords

Distal myopathy; Dysferlin; Muscle hypertrophy; Muscular dystrophy

Indexed keywords

CREATINE KINASE;

EID: 0034122879     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.6.1229     Document Type: Article
Times cited : (88)

References (21)
  • 1
    • 0032955751 scopus 로고    scopus 로고
    • Dysferlin is a plasma membrane protein and is expressed early in human development
    • Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999; 8: 855-61.
    • (1999) Hum Mol Genet , vol.8 , pp. 855-861
    • Anderson, L.V.1    Davison, K.2    Moss, J.A.3    Young, C.4    Cullen, M.J.5    Walsh, J.6
  • 4
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20: 37-42.
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3    Keers, S.4    Vafiadaki, E.5    Lako, M.6
  • 5
    • 0028951204 scopus 로고
    • Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
    • Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995; 45: 768-72.
    • (1995) Neurology , vol.45 , pp. 768-772
    • Bejaoui, K.1    Hirabayashi, K.2    Hentati, F.3    Haines, J.L.4    Ben Hamida, C.5    Belal, S.6
  • 7
    • 0028835527 scopus 로고
    • Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
    • Bushby KM. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies. Neuromuscul Disord 1995; 5: 71-4.
    • (1995) Neuromuscul Disord , vol.5 , pp. 71-74
    • Bushby, K.M.1
  • 8
    • 0032855394 scopus 로고    scopus 로고
    • Making sense of the limb-girdle muscular dystrophies
    • Bushby KM. Making sense of the limb-girdle muscular dystrophies. [Review]. Brain 1999; 122: 1403-20.
    • (1999) Brain , vol.122 , pp. 1403-1420
    • Bushby, K.M.1
  • 9
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies - Proposal for a new nomenclature
    • Bushby KM, Beckmann JS. The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromuscul Disord 1995; 5: 337-43.
    • (1995) Neuromuscul Disord , vol.5 , pp. 337-343
    • Bushby, K.M.1    Beckmann, J.S.2
  • 10
    • 0029963979 scopus 로고    scopus 로고
    • Juvenile limb-girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island
    • Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, et al. Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996; 119: 295-308.
    • (1996) Brain , vol.119 , pp. 295-308
    • Fardeau, M.1    Hillaire, D.2    Mignard, C.3    Feingold, N.4    Feingold, J.5    Mignard, D.6
  • 11
    • 0342598817 scopus 로고
    • High frequency of muscular dystrophy I (limb-girdle) among Jews of Libyan origin
    • Fried K. High frequency of muscular dystrophy I (limb-girdle) among Jews of Libyan origin [Abstract]. Clin Genet 1991; 40: 140-1.
    • (1991) Clin Genet , vol.40 , pp. 140-141
    • Fried, K.1
  • 12
    • 0000114741 scopus 로고
    • Distal myopathies
    • Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
    • Griggs RC, Markesbery WR. Distal myopathies. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd ed. New York: McGraw-Hill; 1994. p. 1246-57.
    • (1994) Myology. 2nd Ed. , pp. 1246-1257
    • Griggs, R.C.1    Markesbery, W.R.2
  • 14
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-6.
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3    Wu, C.4    Fardeau, M.5    Angelini, C.6
  • 16
    • 0031183207 scopus 로고    scopus 로고
    • Familial Creutzfeldt-Jakob disease: Codon 200 prion disease in Libyan Jews
    • Baltimore
    • Meiner Z, Gabizon R, Prusiner SB. Familial Creutzfeldt-Jakob disease: codon 200 prion disease in Libyan Jews. [Review]. Medicine (Baltimore) 1997; 76: 227-37.
    • (1997) Medicine , vol.76 , pp. 227-237
    • Meiner, Z.1    Gabizon, R.2    Prusiner, S.B.3
  • 17
    • 0022634885 scopus 로고
    • Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy
    • Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Brain 1986; 109: 31-54.
    • (1986) Brain , vol.109 , pp. 31-54
    • Miyoshi, K.1    Kawai, H.2    Iwasa, M.3    Kusaka, K.4    Nishino, H.5
  • 18
    • 0001283510 scopus 로고
    • Facioscapulohumeral disease and the scapuloperoneal syndrome
    • Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
    • Munsat TL. Facioscapulohumeral disease and the scapuloperoneal syndrome. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd ed. New York: McGraw-Hill; 1994. p. 1220-32.
    • (1994) Myology. 2nd Ed. , pp. 1220-1232
    • Munsat, T.L.1
  • 19
    • 0002965037 scopus 로고
    • Progressive muscular dystrophy and the myotonic disorders
    • Walton JN, editor. Edinburgh: Churchill Livingstone
    • Walton JN, Gardner-Medwin D. Progressive muscular dystrophy and the myotonic disorders. In: Walton JN, editor. Disorders of voluntary muscle. 4th ed. Edinburgh: Churchill Livingstone; 1981. p. 481-524.
    • (1981) Disorders of Voluntary Muscle. 4th Ed. , pp. 481-524
    • Walton, J.N.1    Gardner-Medwin, D.2
  • 20
    • 0029845713 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
    • Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996; 59: 872-8.
    • (1996) Am J Hum Genet , vol.59 , pp. 872-878
    • Weiler, T.1    Greenberg, C.R.2    Nylen, E.3    Halliday, W.4    Morgan, K.5    Eggertson, D.6
  • 21
    • 0032897762 scopus 로고    scopus 로고
    • Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
    • Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999; 8: 871-7.
    • (1999) Hum Mol Genet , vol.8 , pp. 871-877
    • Weiler, T.1    Bashir, R.2    Anderson, L.V.3    Davison, K.4    Moss, J.A.5    Britton, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.