Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지

A Case of Childhood-onset Form of Nemaline Myopathy

소아형 Nemaline 근병증 1예

  • Kim, Hyun Kyung (Department of Neurology, Seoul National University College of Medicine) ;
  • Kim, Sung-Min (Department of Neurology, Seoul National University College of Medicine) ;
  • Kim, Nam-Hee (Department of Neurology, Dongguk University International Hospital) ;
  • Hong, Yoon-Ho (Department of Neurology, Seoul National University College of Medicine) ;
  • Sung, Jung-Joon (Department of Neurology, Seoul National University College of Medicine) ;
  • Choe, Gheeyoung (Department of Pathology, Seoul National University College of Medicine) ;
  • Park, Seong-Ho (Department of Neurology, Seoul National University College of Medicine) ;
  • Lee, Kwang-Woo (Department of Neurology, Seoul National University College of Medicine) ;
  • Park, Kyung Seok (Department of Neurology, Seoul National University College of Medicine)
  • 김현경 (서울대학교 의과대학 신경과학교실) ;
  • 김성민 (서울대학교 의과대학 신경과학교실) ;
  • 김남희 (일산동국대학교병원 신경과) ;
  • 홍윤호 (서울대학교 의과대학 신경과학교실) ;
  • 성정준 (서울대학교 의과대학 신경과학교실) ;
  • 최기영 (서울대학교 의과대학 병리학교실) ;
  • 박성호 (서울대학교 의과대학 신경과학교실) ;
  • 이광우 (서울대학교 의과대학 신경과학교실) ;
  • 박경석 (서울대학교 의과대학 신경과학교실)
  • Published : 2006.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Nemaline myopathy is one of the congenital myopathy, which is characterized by histological findings of nemaline bodies (rods) and type 1 fiber hypotrophy and predominance. It can be classified into three forms according to the age of onset and clinical features: congenital form, childhood-onset form, and adult-onset form. We report an 18-year-old patient with generalized muscle weakness and dysmorphic features who was diagnosed as typical childhood-onset nemaline myopathy.

Keywords