The molecular analysis of 127 DMD/BMD patients showed that 73 of them (57%) had
deletions in the dystrophin gene. Two different methods were used in this study:(a) …

A total of 162 Duchenne (DMD) patients and two girls with a DMD phenotype were anlysed
for deletions in the central region of the dystrophin gene in order to determine if there was a …

Duchenne muscular dystrophy (DMD) is a lethal X-linked genetic disease that for many
years was one of the most perplexing and frustrating disorders in clinical genetics. Until the …

In a 9‐year‐old boy with Duchenne muscular dystrophy we found a large in‐frame deletion,
spanning exons 10 to 53 of the dystrophin gene. The deletion removed almost all of the …

Dystrophin, the protein product of the Duchenne muscular dystrophy gene, is expressed in
brain as well as muscle. The role of dystrophin in the brain is not clear, though one-third of …

Most Duchenne muscular dystrophy (DMD) patients have genetic deletions or point
mutations in the dystrophin gene that alter the reading frame of dystrophin mRNA. This …

A large and complex gene on the X chromosome encodes dystrophin. Many mutations have
been described in this gene, most of which affect the expression of the muscle isoform, the …

Over the last few years it has become clear that a proportion of biopsies from patients with
Duchenne muscular dystrophy (DMD) contain fibres which show dystrophin-positive …

Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in
the central nervous system (CNS) including the retinal layers. Disruption of these protein …

Antibodies directed against the amino-and carboxy-terminal regions of dystrophin have
been used to characterize 25 Duchenne muscular dystrophy (DMD), two intermediate, and …