نتایج جستجو برای: muscular dystrophies

تعداد نتایج: 45375  

2012
Imelda J.M. de Groot Nicoline B.M. Voet Merel Jansen Lenie van den Engel-Hoek

Life expectancy is increasing in muscular dystrophies: as an example due to technical medical interventions like spine surgery and home ventilation, boys with Duchenne muscular dystrophy become men. Increasing evidence concerning retarding drugs becomes available for muscular dystrophies. Cardiac symptoms can effectively be treated with drugs and also cardioprotective drugs are tested. New reta...

Journal: :Annual review of pathology 2007
Elizabeth M McNally Peter Pytel

Dystrophic muscle disease can occur at any age. Early- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies may be mild and associated with slight weakness and an inability to increase muscle mass. The phenotype of muscular dystrophy is a...

Journal: :BioEssays : news and reviews in molecular, cellular and developmental biology 2002
Heather J Spence Yun-Ju Chen Steven J Winder

Muscular dystrophies are associated with mutations in genes encoding several classes of proteins. These range from extracellular matrix and integral membrane proteins to cytoskeletal proteins, but also include a heterogeneous group of proteins including proteases, nuclear proteins, and signalling molecules. Muscular dystrophy phenotypes have also become evident in studies on various knockout mi...

2009
Xaver König Markus Mille Stefanie Kimbacher René Cervenka Péter Lukács Hannes Todt Reginald E Bittner Karlheinz Hilber

Background Muscular dystrophies comprise a heterogeneous group of inherited diseases that are characterized by progressive muscle weakness and degeneration. Severe forms, e.g. Duchenne muscular dystrophy (DMD), which is caused by a mutation in the dystrophin gene, lead to loss of ambulation, respiratory failure, and premature death. In many types of the muscular dystrophies the cardiac muscle i...

Journal: :Neuromuscular disorders : NMD 2011
Jinhong Meng Francesco Muntoni Jennifer E Morgan

The muscular dystrophies are inherited disorders characterised by progressive muscle wasting and weakness. Stem cell therapy is considered to be one of the most promising strategies for treating muscular dystrophies. In this review, we first examine the evidence that a stem cell could be used to treat muscular dystrophies, and then discuss the criteria that an ideal stem cell should meet. We al...

Journal: :Neuromuscular disorders : NMD 2003
Pervin Dinçer Burcu Balci Yeliz Yuva Beril Talim Martin Brockington Deniz Dinçel Silvia Torelli Sue Brown Gülsev Kale Göknur Haliloglu Filiz Ozbas Gerçeker Rengül Cetin Atalay Cengiz Yakicier Cheryl Longman Francesco Muntoni Haluk Topaloglu

The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized b...

Journal: :Neuromuscular Disorders 2020

Journal: :AJNR. American journal of neuroradiology 1983
M Jiddane J L Gastaut J F Pellissier J Pouget G Serratrice G Salamon

Seventy-five patients with a variety of muscular dystrophies were studied using computed tomography (CT). At least 11 slices were taken in each patient, from the forearm to the lower leg. Sufficient information was obtained to provide some CT characteristics of several dystrophies, including Duchenne muscular dystrophy, facioscapulohumeral syndrome, limb-girdle muscle myopathies, and myopathic ...

Journal: :Neuromuscular disorders : NMD 2004
Francesco Muntoni Thomas Voit

The congenital muscular dystrophies are a heterogeneous group of inherited disorders. The clinical features range from severe and often early fatal disorders to relatively mild conditions compatible with survival into adult life. The recent advances in the genetic basis of congenital muscular dystrophies have allowed to significantly improve our understanding of their pathogenesis and clinical ...

Journal: :Neuromuscular Disorders 2012

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