From the point of view of genetic counselling carrier detection is most important in X-linked disorders. Okinaka et al. (1959) were the first to employ the serum level of creatine kinase to detect female carriers of X-linked Duchenne muscular dystrophy. Since then many investigators have confirmed the usefulness and reliability of this test. So far results on over 200 carriers have been reporte...

The spreading on glass of monensin-treated normal and Duchenne fibroblasts has been investigated with the intention of extending this approach to a study of the comparative spreading of these cells on differing substrata. Untreated normal and Duchenne fibroblasts varied considerably in their ability to spread on glass. The spreading properties of normal and DMD fibroblasts treated in four diffe...

BACKGROUND Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is up regulated in reaction to increased wall stretching. N-terminal-proBNP (NT-proBNP) has been shown to be a robust laboratory parameter to diagnose and monitor cardiac failure,...

espite recent research developments, Duchenne muscular dystrophy remains a fatal neuromuscular disease, affecting two to three boys in 10,000. It is an inherited X-linked recessive condition caused by a frameshift mutation in the dystrophin gene at the Xp21.2 locus of the X chromosome. Dystrophin is a large cell-membrane protein involved in calcium transport in the muscle cell. Boys with Duchen...

End stage dilated cardiomyopathy (DCM) is currently one of the most challenging elements in the management of patients affected by Duchenne muscular dystrophy [1]. DCM is a complication of Duchenne muscular dystrophy, and leads to advanced heart failure and premature death [2,3]. Until the last decade, cardiomyopathy inDuchennemuscular dystrophy accounted for only 20% of deaths because respirat...

BACKGROUND Patients with Duchenne muscular dystrophy exhibit progressive cardiac and skeletal muscle dysfunction. Based on prior data, cardiac dysfunction in Duchenne muscular dystrophy patients may be influenced by myocardial fibrosis and steroid therapy. We examined the longitudinal relationship of myocardial fibrosis and ventricular dysfunction using cardiac magnetic resonance in a large Duc...

OBJECTIVE To study the expiratory muscle force and the ability to cough estimated by the peak expiratory flow and peak cough flow in patients with Duchenne muscular dystrophy and amyotrophic lateral sclerosis. DESIGN A total of 27 patients with amyotrophic lateral sclerosis and 52 patients with Duchenne muscular dystrophy were studied. From the group of 144 normal subjects of this laboratory,...

a r t i c l e i n f o Which is the strongest predictor of Duchenne smiles? Is it emotion or sociality? Two field studies on the production of facial behavior by winning judo fighters (N = 174) are presented, testing if judo fighters smiled while being happy or while they were engaged in social interaction with the audience. Our studies simultaneously meet important methodological requirements: ...

Mutation in the dystrophin gene results Duchenne Muscular Dystrophy (DMD), an X-linked fatal neuromuscular disorder. Dystrophin deficiency can be compensated by upregulation of utrophin, an autosomal homologue of dystrophin. But the expression of utrophin in adults is restricted to myotendinous and neuromuscular junctions. Therefore utrophin upregulation throughout the muscle fiber can only be ...