Duchenne muscular dystrophy (DMD) causes cognitive impairment in one third of the
patients, although the underlying mechanisms remain to be elucidated. Recent studies …

We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.
9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing …

The presence of variable degrees of non progressive cognitive impairment is recognized as
a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and …

Approximately one‐third of the mutations responsible for Duchenne muscular dytrophy
(DMD) do not involve gross rearrangements of the dystrophin gene. Methods for intensive …

SUMMARY The authors collected Verbal, Performance and Full‐scale IQs for 74 patients in
whom complete analysis of the dystrophin gene for deletions and duplications had been …

The Duchenne muscular dystrophy (DMD) gene has a complex structural and functional
organization (1). At least five different promoters drive the transcription of tissue-specific …

Aim Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders.
The aim of the study was to characterize the DMD neuropsychiatric profile fully and to …

Several forms of inherited muscular dystrophy are associated with brain abnormalities and
cognitive impairment. One of the most common and severe of these diseases is Duchenne …

It has been suggested that the absence or altered structure of Dp71, a C-terminal dystrophin
gene encoded protein, is responsible for mental alterations observed in about 30% of …

Molecular genetics has transformed clinical concepts of Duchenne muscular dystrophy
(DMD) in several different ways.(1) The disease can now be defined as a myopathy due to …