병리학적으로 X 염색체 연관 근세관성근병증을 모방한 선천성 근긴장성이영양증

Congenital Myotonic Dystrophy Pathologically Mimicking X-Linked Myotubular Myopathy

  • 박진성 (양산부산대학교병원 신경과) ;
  • 허소영 (양산부산대학교병원 신경과) ;
  • 정나연 (양산부산대학교병원 신경과) ;
  • 신진홍 (양산부산대학교병원 신경과) ;
  • 변신연 (양산부산대학교병원 소아과) ;
  • 김대성 (양산부산대학교병원 신경과)
  • Park, Jin-Sung (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Huh, So-Young (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Jung, Na-Yeon (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Shin, Jin-Hong (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Byun, Shin-Yun (Department of Pediatrics, Pusan National University Yangsan Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University Yangsan Hospital)
  • 투고 : 2012.05.08
  • 심사 : 2012.10.29
  • 발행 : 2012.12.30

초록

키워드

참고문헌

  1. Birdi K, Prasad AN, Prasad C, Chodirker B, Chudley E. The floppy infant syndrome: Retrospective analysis of clinical experience (1990-2000) in a tertiary care facility. J Child Neurol 2005;20:803-808. https://doi.org/10.1177/08830738050200100401
  2. DiRocco M, Gennarelli M, Veneselli E, Bado M, Romanengo M, Celle ME, et al. Diagnostic problems in congenital myotonic dystrophy. Eur J Pediatr 1996;155:995.
  3. Buj-bello A, Furling D, Tronchere H, Laporte J, Lerouge T, Butler-Browne GS, et al. Muscle-specific alternative slicing of myotubulin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 2002;20:2297-2307.
  4. Tominaga K, Hayashi YK, Goto K, Minami N, Noguchi S, Nonaka I, et al. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. Acta Neuropathol 2010;19:481-486.
  5. Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear myotubular) myopathy. Orphanet J Rare Dis 2008;3:26. https://doi.org/10.1186/1750-1172-3-26
  6. Day JW, Ranum PW. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord 2005;15:5-16. https://doi.org/10.1016/j.nmd.2004.09.012
  7. Sewry CA, Quinlivan CM, Squier W, Morris GE, Holt I. A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. Neuromuscul Disord 2012;22:225-230. https://doi.org/10.1016/j.nmd.2011.10.002