Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused
primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with …

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis
within the newborn period a high priority. We undertook a consortia approach to advance …

Duchenne muscular dystrophy (DMD) is the most common pediatric‐onset form of muscular
dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi‐system disease resulting …

Micro-dystrophin gene replacement therapies for Duchenne muscular dystrophy (DMD) are
currently in clinical trials, but have not been thoroughly investigated for their efficacy on …

Background Female carriers of dystrophin gene mutations (DMD-FC) were previously
considered non-manifesting, but in recent decades, cardiomyopathy associated with …

The 263rd ENMC International Workshop was convened in Amsterdam 13th-15th May 2022.
This was a hybrid meeting (participants took part either face to face or virtual via an on-line …

Background With the continuous improvement of the respiratory care of Duchenne muscular
dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the …

This chapter first explains the incidence or prevalence of congenital anomalies or genetic
disorders. Many factors influence efforts to accurately determine the incidence or prevalence …

Abstract Introduction/Aims The dystrophinopathies primarily affect males; however, female
carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study …

Cardiomyopathy (CM) is the leading cause of death for individuals with Duchenne muscular
dystrophy (DMD). While DMD CM progresses rapidly and fatally for some in teenage years …