The enormous size of the human dystrophin gene (2300 kb) has so far hindered the analysis
of its organization and the characterization at the genomic level of the deletion and …

The genomic organization of most of the human dystrophin gene has not been defined at
single-exon level, owing to its enormous size (2300 kb). By taking advantage of a YAC …

Although large deletions comprise 65% of the mutations that underlie most cases of
Duchenne and Becker muscular dystrophies, the DNA sequence characteristics of the …

About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA
rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex …

Screening of dystrophin gene by cDNA probes revealed that in patients affected with
Duchenne (DMD) or Becker (BMD) muscular dystrophy (X-linked recessive) about 60% of …

The past few years have seen a rapid increase in our knowledge of naturally occurring
mutations in the dystrophin gene. Although earlier studies were limited to gross …

The dystrophin gene, which is mutated in Duchenne and Becker muscular dystrophy, is
characterized by its extremely large introns. Seven cryptic exons from the intronic sequences …

Defining the range of mutations in genes that cause human disease is essential to
determine the mechanisms of genetic variation and the function of gene domains and to …

We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker
(BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show …

A combination of multiplex PCR with the single strand conformation polymorphism (SSCP)
technique was employed to screen for point mutations in the human dystrophin gene. Co …