메뉴 건너뛰기




Volumn 100, Issue 3, 1999, Pages 199-201

Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture

Author keywords

Ankle contracture; Autosomal dominant inheritance; Creatine kinase; Limb girdle muscular dystrophy

Indexed keywords

CREATINE KINASE;

EID: 0032765019     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1999.tb00739.x     Document Type: Article
Times cited : (3)

References (15)
  • 1
    • 0014478756 scopus 로고
    • Genetic studies of a family with two unusual autosomal dominant conditions: Muscular dystrophy and Pelger-Huet anomaly
    • Schneiderman LJ, Sampson WI. Genetic studies of a family with two unusual autosomal dominant conditions: Muscular dystrophy and Pelger-Huet anomaly. Am J Med 1969;46:380-93.
    • (1969) Am J Med , vol.46 , pp. 380-393
    • Schneiderman, L.J.1    Sampson, W.I.2
  • 3
    • 0016206413 scopus 로고
    • A late onset autosomal dominant form of limb-girdle muscular dystrophy
    • De Coster W, De Reuck J, Thiery E. A late onset autosomal dominant form of limb-girdle muscular dystrophy. Eur Neurol 1974;12:159-72.
    • (1974) Eur Neurol , vol.12 , pp. 159-172
    • De Coster, W.1    De Reuck, J.2    Thiery, E.3
  • 4
    • 0017259099 scopus 로고
    • Benign myopathy with autosomal dominant inheritance: A report on three pedigrees
    • Bethlem J, van Wungaarden GK. Benign myopathy with autosomal dominant inheritance: A report on three pedigrees. Brain 1976;99:91-100.
    • (1976) Brain , vol.99 , pp. 91-100
    • Bethlem, J.1    Van Wungaarden, G.K.2
  • 6
    • 0023856168 scopus 로고
    • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
    • Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988;38:5-9.
    • (1988) Neurology , vol.38 , pp. 5-9
    • Gilchrist, J.M.1    Pericak-Vance, M.2    Silverman, L.3    Roses, A.D.4
  • 7
    • 0025876630 scopus 로고
    • Limb girdle muscular dystrophy with autosomal dominant inheritance
    • Marconi G, Pizzi A, Arimondi CG, Vannelli B. Limb girdle muscular dystrophy with autosomal dominant inheritance. Acta Neurol Scand 1991;83:234-8.
    • (1991) Acta Neurol Scand , vol.83 , pp. 234-238
    • Marconi, G.1    Pizzi, A.2    Arimondi, C.G.3    Vannelli, B.4
  • 8
    • 0029994718 scopus 로고    scopus 로고
    • A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
    • van der Kooi AJ, Ledderhof TM, de Voogt WG et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996;39:636-42.
    • (1996) Ann Neurol , vol.39 , pp. 636-642
    • Van der Kooi, A.J.1    Ledderhof, T.M.2    De Voogt, W.G.3
  • 9
    • 0028835527 scopus 로고
    • Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
    • Bushby KMD. 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.D.1
  • 10
    • 0027983965 scopus 로고
    • Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9
    • Yamaoka LH, Westbrook CA, Speer MC et al. Development of a microsatellite genetic map spanning 5q31 -q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromuscul Disord 1994;4:471-5.
    • (1994) Neuromuscul Disord , vol.4 , pp. 471-475
    • Yamaoka, L.H.1    Westbrook, C.A.2    Speer, M.C.3
  • 11
    • 0029988596 scopus 로고    scopus 로고
    • Genetic localization of Bethlem myopathy
    • Jöbsis GJ, Bolhuis PA, Boers JM et al. Genetic localization of Bethlem myopathy. Neurology 1996;46:779-82.
    • (1996) Neurology , vol.46 , pp. 779-782
    • Jöbsis, G.J.1    Bolhuis, P.A.2    Boers, J.M.3
  • 12
    • 8944254698 scopus 로고    scopus 로고
    • Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
    • Speer MC, Tandan R, Rao PN et al. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet 1996;5:1043-6.
    • (1996) Hum Mol Genet , vol.5 , pp. 1043-1046
    • Speer, M.C.1    Tandan, R.2    Rao, P.N.3
  • 13
    • 0030882270 scopus 로고    scopus 로고
    • Linkage analysis of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
    • Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage analysis of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997;61:909-17.
    • (1997) Am J Hum Genet , vol.61 , pp. 909-917
    • Messina, D.N.1    Speer, M.C.2    Pericak-Vance, M.A.3    McNally, E.M.4
  • 14
    • 0029771617 scopus 로고    scopus 로고
    • Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
    • Jöbsis GJ, Keizers H, Vreuling JP et al. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996;14:113-15.
    • (1996) Nat Genet , vol.14 , pp. 113-115
    • Jöbsis, G.J.1    Keizers, H.2    Vreuling, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.