[Chinese guidelines on the diagnosis of dystrophinopathy].

Abstract excerpt

Dystrophinopathy refers to a group of X-linked recessive myopathies that primarily affect skeletal and/or cardiac muscle caused by pathogenic variants in the dystrophin-encoding DMD gene, including Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked dilated cardiomyopathy. The broad and complex spectrum of pathogenic DMD variants complicates the diagnosis and clinical classification in some...

Topics

• Humans
• Dystrophin
• Muscular Dystrophy, Duchenne
• Cardiomyopathy, Dilated
• Mutation