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Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci

  • Authors:
    • Fang-Yuan Li
    • Albert Szobor
    • Rebecca Croxen
    • Victoria Anselmo
    • Qiu-Ping Yuan
    • Kerstin Lindblad
    • Martin Schalling
    • Samuel Komoly
    • David Beeson
    • Catharina Larsson

  • View Affiliations

  • Published online on: March 1, 2001     https://doi.org/10.3892/ijmm.7.3.289
  • Pages: 289-294
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Abstract

Myasthenia gravis (MG) is a sporadic autoimmune disorder affecting neuromuscular transmission. Very rarely autoimmune myasthenia gravis may be inherited within a family. We present here the genetic analysis of a Hungarian family where nine members from two generations are affected by myasthenia gravis. Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement of defined candidate gene loci. These findings point to familial MG as a separate genetic entity. Identification of the underlying genetic defect in this family may greatly enhance our understanding of the pathogenesis of myasthenia gravis.

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Journal Cover

March 2001
Volume 7 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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  • Journal Metrics
  • Impact Factor: 5.4
  • Ranked Medicine Research and Experimental
    (total number of cites)
  • CiteScore: 10.7
  • CiteScore Rank: Q1: #35/328 Biochemistry, Genetics and Molecular Biology
  • Source Normalized Impact per Paper (SNIP): 0.994
  • SCImago Journal Rank (SJR): 0.922
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Spandidos Publications style
Li F, Szobor A, Croxen R, Anselmo V, Yuan Q, Lindblad K, Schalling M, Komoly S, Beeson D, Larsson C, Larsson C, et al: Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci. Int J Mol Med 7: 289-294, 2001
APA
Li, F., Szobor, A., Croxen, R., Anselmo, V., Yuan, Q., Lindblad, K. ... Larsson, C. (2001). Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci. International Journal of Molecular Medicine, 7, 289-294. https://doi.org/10.3892/ijmm.7.3.289
MLA
Li, F., Szobor, A., Croxen, R., Anselmo, V., Yuan, Q., Lindblad, K., Schalling, M., Komoly, S., Beeson, D., Larsson, C."Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci". International Journal of Molecular Medicine 7.3 (2001): 289-294.
Chicago
Li, F., Szobor, A., Croxen, R., Anselmo, V., Yuan, Q., Lindblad, K., Schalling, M., Komoly, S., Beeson, D., Larsson, C."Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci". International Journal of Molecular Medicine 7, no. 3 (2001): 289-294. https://doi.org/10.3892/ijmm.7.3.289