Expert consensus on the genetic diagnosis for Dystrophinopathies.
10.3760/cma.j.cn511374-20220523-00347
- VernacularTitle:肌营养不良蛋白病遗传学诊断专家共识
- Author:
Guiyu LOU
1
,
2
;
Qiaofang HOU
;
Na QI
;
Yongguo YU
;
Shixiu LIAO
Author Information
1. Medical Genetics Branch of Chinese Medical Association; Rare Diseases Group, Society of Pediatrics, Chinese Medical Association; The China Alliance for Rare Diseases; Molecular Diagnosis Branch of Shanghai Medical Association; Genetic Medicine Branch of Henan Provincial Medical Association. yuyongguo _1＠
2. com.
- Publication Type:Journal Article
- MeSH:
Humans;
Quality of Life;
Consensus;
Dystrophin/genetics*;
Muscular Dystrophy, Duchenne/therapy*;
Cardiomyopathy, Dilated/genetics*;
Electrocardiography
- From:
Chinese Journal of Medical Genetics
2023;40(8):909-914
- CountryChina
- Language:Chinese
-
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.
