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
,
3
,
4
,
5
;
Qiaofang HOU
;
Na QI
;
Yongguo YU
;
Shixiu LIAO
Author Information
1. Medical Genetics Branch of Chinese Medical Association
2. Rare Diseases Group, Society of Pediatrics, Chinese Medical Association
3. The China Alliance for Rare Diseases
4. Molecular Diagnosis Branch of Shanghai Medical Association
5. Genetic Medicine Branch of Henan Provincial Medical Association. yuyongguo _1＠163.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.
