نتایج جستجو برای: bethlem myopathy
تعداد نتایج: 12325 فیلتر نتایج به سال:
A THREE LEVEL-INTERVENTION TO REDUCE PRN MEDICATION ON A SPECIALIST EATING DISORDERS WARD FOR ADULT FEMALE PATIENTS WITH ANOREXIA NERVOSA Elizabeth Tyrrell-Bunge, Arnaldo Felix de Carvalho, Charlotte Scott, Sophie Tomlin, Janet Treasure & Hubertus Himmerich Bethlem Royal Hospital, South London and Maudsley NHS Foundation Trust, London, UK Department of Psychological Medicine, IoPPN, King’s Coll...
Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). Although the Col6a1(-/-) null mouse has an extremely mild neuromuscular phenotype, a mitochondrial defect has been demonstrated, linked to dysregulation of the mitochondrial permeability transition pore (PTP) o...
Mutations in COL6A1, COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and intermediate phenotypes. At present, none of the existing diagnostic techniques for evaluating collagen VI expression is quantitative, and the detection of subtle changes in collagen VI expression remains challenging. We investigated flow cytomet...
Mutations in the genes that code for type VI collagen can lead to what are known as collagenopathies (collagen myopathies), such Bethlem myopathy (BTHLM1), which affect structural tissues like muscles and tendons. We present case of a young female her two relatives, who were discovered share autosomal dominant COL6A3 mutation whose presentation clinic varied from mild severe. Type represent cli...
BACKGROUND AND PURPOSE Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic...
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