Current molecular genomic approaches to human genetic disorders have led to an
explosion in the identification of the genes and their encoded proteins responsible for these …

Duchenne muscular dystrophy was described in the medical literature in the early 1850s but
the molecular basis of the disease was not determined until the late 1980s. The cloning of …

Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Since the identification of the gene for Duchenne muscular dystrophy and its protein product
some 15 years ago, the basic defects in all the commoner forms of dystrophy have now been …

The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

A large variety of mutations in the dystrophin gene cause Duchenne and Becker muscular
dystrophies, diseases affecting predominantly the striated muscles (skeletal and cardiac) …

Duchenne muscular dystrophy was a well‐established medical and genetic enigma by the
1970s. Why was the new mutation rate so high in all world populations? Why were affected …

Muscular dystrophies are a genetically heterogeneous group of degenerative muscle
disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy …

Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies
(DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X …