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Journal Abstract Search

161 related items for PubMed ID: 4449913

  • 21.
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  • 22. 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, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.
    Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 23. Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser).
    Becker PE.
    Hum Genet; 1986 Oct; 74(2):184. PubMed ID: 3770746
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  • 28. Emery-Dreifuss muscular dystrophy.
    Dickey RP, Ziter FA, Smith RA.
    J Pediatr; 1984 Apr; 104(4):555-9. PubMed ID: 6707817
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  • 29. A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene.
    Ichikawa Y, Watanabe M, Kowa H, Murayama S, Mizuno T, Komuro I, Ishiki R, Goto J, Kanazawa I.
    Ann Neurol; 1997 Mar; 41(3):399-402. PubMed ID: 9066362
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  • 30. [Sporadic occurrence of benign myopathy with early contractures (Emery, Dreifuss and Rotthauwe)].
    Bachmann H, Ziegan J, Krosse B, Oertel G, Krause T.
    Z Gesamte Inn Med; 1983 May 01; 38(9):253-7. PubMed ID: 6683912
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  • 31. Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity.
    Goldblatt J, Schram LJ, Wallis G, Oswald A, Beighton P.
    Clin Genet; 1989 Jan 01; 35(1):1-4. PubMed ID: 2924429
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  • 32. Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature.
    Merlini L, Granata C, Dominici P, Bonfiglioli S.
    Muscle Nerve; 1986 Jan 01; 9(6):481-5. PubMed ID: 3736581
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  • 33.
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  • 34. Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis.
    Wulff K, Ebener U, Wehnert CS, Ward PA, Reuner U, Hiebsch W, Herrmann FH, Wehnert M.
    Dis Markers; 1997 Apr 01; 13(2):77-86. PubMed ID: 9160182
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  • 35. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
    Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick-Jones J, Ellis JA.
    Neuromuscul Disord; 1999 May 01; 9(3):159-65. PubMed ID: 10382909
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  • 36. [Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) in a Japanese family].
    Sasabe F, Takase Y, Fukusako T, Yamamoto K, Morimatsu M.
    Rinsho Shinkeigaku; 1992 Feb 01; 32(2):138-42. PubMed ID: 1611771
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  • 37.
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  • 38. The inheritance of progressive muscular dystrophy in Japan.
    Murakami U.
    Jinrui Idengaku Zasshi; 1967 Dec 01; 12(3):150-69. PubMed ID: 5626875
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  • 39. A family of progressive muscular dystrophy with mental retardation. Clinical observations.
    Suga M, Yoshimuta S, Hayashi Y, Sakamoto F.
    Jinrui Idengaku Zasshi; 1966 Mar 01; 10(4):189-92. PubMed ID: 6008646
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  • 40.
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