Dystrophin and mutations: one gene, several proteins, multiple phenotypes

F Muntoni, S Torelli, A Ferlini - The Lancet Neurology, 2003 - thelancet.com
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 …

Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
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; …

[HTML][HTML] Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy

M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

On the run for hippocampal plasticity

HY Moon, H van Praag - Cold Spring …, 2018 - perspectivesinmedicine.cshlp.org
Accumulating research in rodents and humans indicates that exercise benefits brain function
and may prevent or delay onset of neurodegenerative conditions. In particular, exercise …

Brain function in Duchenne muscular dystrophy

JL Anderson, SI Head, C Rae, JW Morley - Brain, 2002 - academic.oup.com
Duchenne muscular dystrophy (DMD) is the second most commonly occurring genetically
inherited disease in humans. It is an X‐linked condition that affects approximately one in …

[HTML][HTML] Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

PJ Taylor, GA Betts, S Maroulis, C Gilissen… - PloS one, 2010 - journals.plos.org
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 …

Brain dystrophin, neurogenetics and mental retardation

MF Mehler - Brain Research Reviews, 2000 - Elsevier
Duchenne muscular dystrophy (DMD) and the allelic disorder Becker muscular dystrophy
(BMD) are common X-linked recessive neuromuscular disorders that are associated with a …

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

M Chesshyre, D Ridout, Y Hashimoto… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 …

F Daoud, N Angeard, B Demerre, I Martie… - Human molecular …, 2009 - academic.oup.com
The presence of variable degrees of cognitive impairment, extending from severe mental
retardation to specific deficits, in patients with dystrophinopathies is a well-recognized …

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

P Melacini, M Fanin, GA Danieli, C Villanova… - Circulation, 1996 - Am Heart Assoc
Background Several cases of Becker's muscular dystrophy (BMD) have been reported,
which showed mild or subclinical skeletal muscle involvement with an overt dilated …