Background A significant component of the variation in cognitive disability that is observed in
Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study …

Human DMD cDNA probes have been used to delineate possible deletions in 160 affected
males. Approximately 56% of these individuals had detectable deletions, 29% of which …

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy
during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of …

Objective: To determine whether detection of small mutations of the dystrophin gene can be
increased using an enhanced method of single-strand conformation polymorphism analysis …

Duchenne muscular dystrophy is associated with mental retardation and several dystrophin
transcripts are differentially expressed in specific brain areas. G-dystrophin (Dp71) is known …

Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular
dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD …

Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked disorders,
characterized by variable degrees of progressive muscle wasting, respiratory impairment …

We have identified a 7.5 kb transcript from the dystrophin locus which encodes a novel 140
kDa protein (Dp140). Based on immunoblotting Dp140 consists of the distal rod domain and …

We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the
dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight …

Cognitive function and dystrophin gene mutations were investigated in 50 DMD patients
(mean age 11.1 yr; range 3.5–20.3). General intelligence assessment showed 31% of …