Expert consensus on the genetic diagnosis for Dystrophinopathies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 909-914, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-1009233
ABSTRACT
Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Qualidade de Vida
/
Cardiomiopatia Dilatada
/
Distrofina
/
Distrofia Muscular de Duchenne
/
Consenso
/
Eletrocardiografia
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo
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