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 …

Dystrophinopathies

BT Darras, CC Menache-Starobinski, V Hinton… - … disorders of Infancy …, 2015 - Elsevier
Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …

Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity

L Mestroni, C Rocco, D Gregori, G Sinagra… - Journal of the American …, 1999 - jacc.org
OBJECTIVES This study was performed to evaluate the characteristics, mode of inheritance
and etiology of familial dilated cardiomyopathy (FDC). BACKGROUND A genetic form of …

Molecular mechanisms of inherited cardiomyopathies

D Fatkin, RM Graham - Physiological reviews, 2002 - journals.physiology.org
Cardiomyopathies are diseases of heart muscle that may result from a diverse array of
conditions that damage the heart and other organs and impair myocardial function, including …

Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II

SG Priori, J Barhanin, RNW Hauer, W Haverkamp… - Circulation, 1999 - ahajournals.org
Genetic approaches have succeeded in defining the molecular basis of an increasing array
of heart diseases, such as hypertrophic cardiomyopathy and the long-QT syndromes …

Cardiomyopathy, familial dilated

MRG Taylor, E Carniel, L Mestroni - Orphanet journal of rare diseases, 2006 - Springer
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular
dilatation and impaired systolic function. Patients with DCM suffer from heart failure …

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

M Neri, S Torelli, S Brown, I Ugo, P Sabatelli… - Neuromuscular …, 2007 - Elsevier
Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies
(DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X …

The role of cytoskeletal proteins in cardiomyopathies

JA Towbin - Current opinion in cell biology, 1998 - Elsevier
Cardiomyopathies are serious heart muscle disorders in children and adults, which result in
morbidity and premature death. These disorders include hypertrophic cardiomyopathy …

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

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

Identification of the Syrian Hamster Cardiomyopathy Gene

V Nigro, Y Okazaki, A Belsito, G Piluso… - Human molecular …, 1997 - academic.oup.com
The BIO14. 6 hamster is a widely used model for autosomal recessive cardiomyopathy.
These animals die prematurely from progressive myocardial necrosis and heart failure. The …