메뉴 건너뛰기




Volumn 60, Issue 4, 1997, Pages 891-895

Genetic localization of a newly recognized autosomal dominant limb- girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN RECOGNITION; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 1Q; GENE LOCATION; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MARKER GENE; MUSCLE BIOPSY; MUSCLE WEAKNESS; PRIORITY JOURNAL;

EID: 0030898109     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (131)

References (32)
  • 4
  • 5
    • 0028971219 scopus 로고
    • Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, et al (1995) Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11: 266-273
    • (1995) Nat Genet , vol.11 , pp. 266-273
    • Bönnemann, C.G.1    Modi, R.2    Noguchi, S.3    Mizuno, Y.4    Yoshida, M.5    Gussoni, E.6    McNally, E.M.7
  • 7
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies: Proposal for a new nomenclature
    • Bushby KMD, Beckmann JS (1995) The limb-girdle muscular dystrophies: proposal for a new nomenclature. Neuromuscul Disord 5:337-343
    • (1995) Neuromuscul Disord , vol.5 , pp. 337-343
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 10
    • 0023856168 scopus 로고
    • Clinical and genetic investigations in autosomal dominant limb girdle muscular dystrophy
    • Gilchrist JM, Pericak-Vance MA, Silverman L, Roses AD (1988) Clinical and genetic investigations in autosomal dominant limb girdle muscular dystrophy. Neurology 37: 5-9
    • (1988) Neurology , vol.37 , pp. 5-9
    • Gilchrist, J.M.1    Pericak-Vance, M.A.2    Silverman, L.3    Roses, A.D.4
  • 11
    • 0022579313 scopus 로고
    • Evolution of a hereditary cardiac conduction and muscle disorder: A study involving a family with six generations affected
    • Graber HL, Unverferth DV, Baker PB, Ryan JM, Baba N, Wooley CF (1986) Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected. Circulation 74:21-35
    • (1986) Circulation , vol.74 , pp. 21-35
    • Graber, H.L.1    Unverferth, D.V.2    Baker, P.B.3    Ryan, J.M.4    Baba, N.5    Wooley, C.F.6
  • 14
    • 0028145745 scopus 로고
    • A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1
    • Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT, et al (1994) A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet 7:546-551
    • (1994) Nat Genet , vol.7 , pp. 546-551
    • Kass, S.1    MacRae, C.2    Graber, H.L.3    Sparks, E.A.4    McNamara, D.5    Boudoulas, H.6    Basson, C.T.7
  • 16
    • 0028971221 scopus 로고
    • Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allemand V, Meyer J, et al (1995) Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265
    • (1995) Nat Genet , vol.11 , pp. 257-265
    • Lim, L.E.1    Duclos, F.2    Broux, O.3    Bourg, N.4    Sunada, Y.5    Allemand, V.6    Meyer, J.7
  • 17
    • 1642593494 scopus 로고
    • Autosomal dominant limb-girdle muscular dystrophy with cardiomyopathy: A genetically distinct disorder
    • McNally EM, Lidov HGW, Kunkel LM (1995) Autosomal dominant limb-girdle muscular dystrophy with cardiomyopathy: a genetically distinct disorder. Am J Hum Genet Suppl 57:A54
    • (1995) Am J Hum Genet Suppl , vol.57
    • McNally, E.M.1    Lidov, H.G.W.2    Kunkel, L.M.3
  • 19
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, et al (1995) Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270:819-822
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1    McNally, E.M.2    Ben Othmane, K.3    Hagiwara, Y.4    Mizuno, Y.5    Yoshida, M.6    Yamamoto, H.7
  • 21
    • 0029057637 scopus 로고
    • Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region
    • Passos-Bueno MR, Bashir R, Moreira ES, Vainzhof M, Marie SKN, Vasquez L, Lugetti P, et al (1995) Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. Genomics 27: 192-195
    • (1995) Genomics , vol.27 , pp. 192-195
    • Passos-Bueno, M.R.1    Bashir, R.2    Moreira, E.S.3    Vainzhof, M.4    Marie, S.K.N.5    Vasquez, L.6    Lugetti, P.7
  • 22
    • 0030008373 scopus 로고    scopus 로고
    • Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
    • Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (1996) Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 5:815-820
    • (1996) Hum Mol Genet , vol.5 , pp. 815-820
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3    Marie, S.K.4    Zatz, M.5
  • 23
    • 0028807911 scopus 로고
    • A new locus for arrthythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
    • Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, Tiso N, et al (1995) A new locus for arrthythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 4:2151-2154
    • (1995) Hum Mol Genet , vol.4 , pp. 2151-2154
    • Rampazzo, A.1    Nava, A.2    Erne, P.3    Eberhard, M.4    Vian, E.5    Slomp, P.6    Tiso, N.7
  • 27
    • 0026690760 scopus 로고
    • Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
    • Speer MC, Yamaoka LH, Gilchrist JM, Gaskell CP, Stajich JM, Vance JM, Kazantsev A, et al (1992) Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 50:1211-1217
    • (1992) Am J Hum Genet , vol.50 , pp. 1211-1217
    • Speer, M.C.1    Yamaoka, L.H.2    Gilchrist, J.M.3    Gaskell, C.P.4    Stajich, J.M.5    Vance, J.M.6    Kazantsev, A.7
  • 29
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H, Seidman JG, et al (1994) Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77: 701-712
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.6    Seidman, J.G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.