Integrated diagnostic approach of pediatric neuromuscular disorders
Journal of Genetic Medicine
;
: 55-63, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-719112
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pediatria
/
Fenótipo
/
Testes Genéticos
/
Heterogeneidade Genética
/
Técnicas de Diagnóstico Molecular
/
Diagnóstico
/
Aconselhamento Genético
/
Biologia Molecular
/
Doenças Neuromusculares
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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