262 618

Cited 4 times in

A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber

Authors
 Sang Jun Na  ;  Seong Woong Kang  ;  Kee Oog Lee  ;  Kyung Yul Lee  ;  Tai Seung Kim  ;  Young Chul Choi 
Citation
 YONSEI MEDICAL JOURNAL, Vol.45(1) : 150-152, 2004 
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
 0513-5796 
Issue Date
2004
MeSH
Biopsy ; Child ; Developmental Disabilities/pathology* ; Female ; Humans ; Muscle Fibers, Slow-Twitch/pathology* ; Muscle, Skeletal/pathology* ; Neuromuscular Diseases/congenital ; Neuromuscular Diseases/pathology*
Abstract
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.
Files in This Item:
T200404252.pdf Download
DOI
10.3349/ymj.2004.45.1.150
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Lee, Kyung Yul(이경열) ORCID logo https://orcid.org/0000-0001-5585-7739
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112915
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links