Annals of Clinical Neurophysiology

  • 제18권1호
  • /
  • Pages.31-33
  • /
  • 2016
  • /
  • 2508-691X(pISSN)
  • /
  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
권호 표지
DOI QR코드

DOI QR Code

성인에서 원위근병증으로 발현된 네말린근병증

Nemaline Myopathy Presenting as Adult-onset Distal Myopathy

  • 박기홍 (경상대학교 의학대학 신경과학교실) ;
  • 손성연 (을지대학교 의과대학 을지대학병원 신경과) ;
  • 신제영 (서울대학교 의과대학 신경과학교실) ;
  • 김준순 (서울대학교 의과대학 신경과학교실) ;
  • 박성혜 (서울대학교 의과대학 병리학교실) ;
  • 김지선 (고려대학교 의과대학 신경과학교실) ;
  • 성정준 (서울대학교 의과대학 신경과학교실)
  • Park, Kee Hong (Department of Neurology, Gyeongsang National University Hospital) ;
  • Sohn, Sung-Yeon (Department of Neurology, Eulji University Hospital, Eulji University School of Medicine) ;
  • Shin, Je-Young (Department of Neurology, Seoul National University School of Medicine) ;
  • Kim, Jun-Soon (Department of Neurology, Seoul National University School of Medicine) ;
  • Park, Sung-Hye (Department of Pathology, Seoul National University School of Medicine) ;
  • Kim, Ji-Sun (Department of Neurology, Korea University School of Medicine) ;
  • Sung, Jung-Joon (Department of Neurology, Seoul National University School of Medicine)
  • 투고 : 2016.01.27
  • 심사 : 2016.06.01
  • 발행 : 2016.06.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

키워드

참고문헌

  1. Hong JM, Kim SM, Sunwoo IN, Kim SH, Kim TS, Shim DS, et al. Clinical heterogeneity in Korean patients with nemaline myopathy. Yonsei Med J 2010;51:225-230. https://doi.org/10.3349/ymj.2010.51.2.225
  2. Guttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, et al. Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscul Disord 2015;25:392-396. https://doi.org/10.1016/j.nmd.2015.01.013
  3. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: Nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 2000;10:299-306. https://doi.org/10.1016/S0960-8966(99)00129-7
  4. Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Nemaline myopathies. Semin Pediatr Neurol 2011;18:230-238. https://doi.org/10.1016/j.spen.2011.10.004
  5. Wallgren-Pettersson C, Lehtokari VL, Kalimo H, Paetau A, Nuutinen E, Hackman P, et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007;130:1465-1476. https://doi.org/10.1093/brain/awm094
  6. Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi, V, Pouget J, Franques J, et al. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord 2011;21:556-562. https://doi.org/10.1016/j.nmd.2011.05.012
  7. Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord 2004;14:779-784. https://doi.org/10.1016/j.nmd.2004.08.005
  8. Olive M, Goldfarb LG, Lee HS, Odgerel Z, Blokhin A, Gonzalez-Mera L, et al. Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve 2010;42:901-907. https://doi.org/10.1002/mus.21788
  9. Udd B. Distal myopathies - New genetic entities expand diagnostic challenge. Neuromuscul Disord 2012;22:5-12. https://doi.org/10.1016/j.nmd.2011.10.003