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Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene

  • Park, Hyung Jun (Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine) ;
  • Lee, Jung Hwan (Department of Neurology, Yonsei University College of Medicine) ;
  • Kim, Se Hoon (Department of Pathology, Yonsei University College of Medicine) ;
  • Hong, Ji-Man (Department of Neurology, Yonsei University College of Medicine) ;
  • Shin, Ha Young (Department of Neurology, Yonsei University College of Medicine) ;
  • Kim, Seung Min (Department of Neurology, Yonsei University College of Medicine) ;
  • Lee, Ji Hyun (Department of Clinical Pharmacology and Therapeutics, College of Medicine, Kyung Hee University) ;
  • Park, Kee Duk (Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine) ;
  • Choi, Young-Chul (Department of Neurology, Yonsei University College of Medicine)
  • Received : 2016.07.22
  • Accepted : 2016.08.16
  • Published : 2017.01.01

Abstract

Keywords

References

  1. Yue D, Gao M, Zhu W, Luo S, Xi J, Wang B, et al. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. Neuromuscul Disord 2015;25:172-176. https://doi.org/10.1016/j.nmd.2014.11.005
  2. Park HJ, Jang H, Kim JH, Lee JH, Shin HY, Kim SM, et al. Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clin Genet 2016 Jul 1 [Epub]. http://dx.doi. org/10.1111/cge.12826.
  3. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013;81:1205-1214. https://doi.org/10.1212/WNL.0b013e3182a6ca62
  4. Chauveau C, Rowell J, Ferreiro A. A rising titan: TTN review and mutation update. Hum Mutat 2014;35:1046-1059. https://doi.org/10.1002/humu.22611