Diagnostic development of precision medicine for pseudohypertrophic muscular dystrophy / 国际儿科学杂志

ABSTRACT

Pseudohypertrophic muscular dystrophy is an X-linked recessive muscular disease caused by DMD gene mutation, including two clinical types- Duchenne and Becker muscular dystrophy(DMD / BMD). So far, there is no cure.With the positive response and development of precise medical research in recent years, precise diagnostic methods such as gene sequencing technology, play a more and more important role in the diagnosis of this single gene genetic disease.This article reviews the diagnostic development of this disease under the current background of precision medicine.