نتایج جستجو برای: brody myopathy

تعداد نتایج: 12892  

2015

Synonyms Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy First described by Ullrich in 1930 and Bethlem in 1976 respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6...

Journal: :Journal of Genetic Syndromes & Gene Therapy 2013

Journal: :The New England journal of medicine 2008
E Link S Parish J Armitage L Bowman S Heath F Matsuda I Gut M Lathrop R Collins

BACKGROUND Lowering low-density lipoprotein cholesterol with statin therapy results in substantial reductions in cardiovascular events, and larger reductions in cholesterol may produce larger benefits. In rare cases, myopathy occurs in association with statin therapy, especially when the statins are administered at higher doses and with certain other medications. METHODS We carried out a geno...

Journal: :American heart journal 2010
Soko Setoguchi John M Higgins Helen Mogun Vamsi K Mootha Jerry Avorn

BACKGROUND A recent large-scale, chemical screening study raised the hypothesis that propranolol may increase the risk of myopathy. We tested this hypothesis in a large population to assess whether (1) propranolol use is associated with an increased risk of myopathy and (2) the concurrent use of propranolol with a statin may further increase risk of myopathy. METHODS New users of propranolol ...

Journal: :The Journal of bone and joint surgery. British volume 1974
M A Edgar W M Park

Passively raising the straight leg is a clinical test widely used in orthopaedic practice for the assessment of lower lumbar disc protrusion. Forst first described the manoeuvre in 1881 after his attention had been drawn to it by Las#{232}gue(Sjoqvist 1947, Rang 1966, Brody and Wilkins 1969). Fajersztajn (1901) added the foot dorsiflexion test and neck flexion test, which are performed with the...

2002
Christoph Schlier

Nearest neighbor distributions of molecular spectra can, in principle, be used to learn from quantum spectra about the classical dynamics of a system, i.e. whether it is regular or irregular (chaotic). However, the predictive power of this method is limited due to the generally small number of spectral lines available for analysis, and the ambiguities of the procedures used. This is demonstrate...

Journal: :Proceedings of the Royal Society of Medicine 1913

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1979

2018
Zhiyv Niu Carly Sabine Pontifex Sarah Berini Leslie E. Hamilton Elie Naddaf Eric Wieben Ross A. Aleff Kristina Martens Angela Gruber Andrew G. Engel Gerald Pfeffer Margherita Milone

Objective The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies. Patients and methods Clinical and labo...

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