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Integrated diagnostic approach of pediatric neuromuscular disorders

Authors
 Ha Neul Lee  ;  Young-Mock Lee 
Citation
 Journal of Genetic Medicine (대한의학유전학회지), Vol.15(2) : 55-63, 2018 
Journal Title
 Journal of Genetic Medicine (대한의학유전학회지) 
ISSN
 1226-1769 
Issue Date
2018
Keywords
Pediatrics ; Neuromuscular diseases ; Phenotype ; Molecular diagnostic techniques.
Abstract
Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.
Files in This Item:
T201805518.pdf Download
DOI
10.5734/JGM.2018.15.2.55
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/167620
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